{"resourceType":"Parameters","parameter":[{"name":"implication","resource":{"resourceType":"Observation","id":"dv-62fab6305932091e78bf232b","meta":{"profile":["http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"]},"status":"final","category":[{"coding":[{"system":"http://terminology.hl7.org/CodeSystem/observation-category","code":"laboratory"}]}],"code":{"coding":[{"system":"http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs","code":"diagnostic-implication"}]},"subject":{"reference":"Patient/HG02657"},"derivedFrom":[{"reference":"Observation/dv-e6b9e50014b24ebe81a0504cbba79282"}],"component":[{"code":{"coding":[{"system":"http://loinc.org","code":"53037-8","display":"Genetic variation clinical significance"}]},"valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"LA6668-3","display":"Pathogenic"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"81259-4","display":"predicted phenotype"}]},"valueCodeableConcept":{"coding":[{"system":"https://www.ncbi.nlm.nih.gov/medgen","code":"C3469186","display":"Hemochromatosis type 1"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"93044-6","display":"Level of evidence"}]},"valueCodeableConcept":{"text":"criteria provided, single submitter"}}],"identifier":[{"system":"http://www.ncbi.nlm.nih.gov/clinvar","value":"10"},{"system":"http://www.ncbi.nlm.nih.gov/clinvar/scv","value":"SCV001523197.1"}]}},{"name":"variant","resource":{"resourceType":"Observation","id":"dv-e6b9e50014b24ebe81a0504cbba79282","meta":{"profile":["http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"]},"status":"final","category":[{"coding":[{"system":"http://terminology.hl7.org/CodeSystem/observation-category","code":"laboratory"}]}],"code":{"coding":[{"system":"http://loinc.org","code":"69548-6","display":"Genetic variant assessment"}]},"subject":{"reference":"Patient/HG02657"},"valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"LA9633-4","display":"present"}]},"component":[{"code":{"coding":[{"system":"http://loinc.org","code":"48002-0","display":"Genomic Source Class"}]},"valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"LA6683-2","display":"germline"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"48013-7","display":"Genomic reference sequence ID"}]},"valueCodeableConcept":{"coding":[{"system":"http://www.ncbi.nlm.nih.gov/nuccore","code":"NC_000006.11"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"53034-5","display":"Allelic state"}]},"valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"LA6706-1","display":"heterozygous"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"81252-9","display":"Discrete genetic variant"}]},"valueCodeableConcept":{"coding":[{"system":"https://api.ncbi.nlm.nih.gov/variation/v0/","code":"NC_000006.11:26091178:C:G","display":"NC_000006.11:26091178:C:G"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"81258-6","display":"Sample VAF"}]},"valueQuantity":{"value":0.5,"unit":"relative frequency of a particular allele in the specimen","system":"http://unitsofmeasure.org","code":"1"}},{"code":{"coding":[{"system":"http://loinc.org","code":"69547-8","display":"Genomic Ref allele [ID]"}]},"valueString":"C"},{"code":{"coding":[{"system":"http://loinc.org","code":"69551-0","display":"Genomic Alt allele [ID]"}]},"valueString":"G"},{"code":{"coding":[{"system":"http://loinc.org","code":"92822-6","display":"Genomic coord system"}]},"valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"LA30100-4","display":"0-based interval counting"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"81254-5","display":"Variant exact start-end"}]},"valueRange":{"low":{"value":26091178}}},{"code":{"coding":[{"system":"http://loinc.org","code":"92821-8","display":"Population allele frequency"}]},"valueQuantity":{"value":0.10924,"system":"http://unitsofmeasure.org","code":"1"}}]}},{"name":"implication","resource":{"resourceType":"Observation","id":"dv-62fab6305932091e78bf231b","meta":{"profile":["http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"]},"status":"final","category":[{"coding":[{"system":"http://terminology.hl7.org/CodeSystem/observation-category","code":"laboratory"}]}],"code":{"coding":[{"system":"http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs","code":"diagnostic-implication"}]},"subject":{"reference":"Patient/HG02657"},"derivedFrom":[{"reference":"Observation/dv-e6b9e50014b24ebe81a0504cbba79282"}],"component":[{"code":{"coding":[{"system":"http://loinc.org","code":"53037-8","display":"Genetic variation clinical significance"}]},"valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"LA6668-3","display":"Pathogenic"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"81259-4","display":"predicted phenotype"}]},"valueCodeableConcept":{"coding":[{"system":"https://www.ncbi.nlm.nih.gov/medgen","code":"C3469186","display":"Hemochromatosis type 1"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"93044-6","display":"Level of evidence"}]},"valueCodeableConcept":{"text":"criteria provided, single submitter"}}],"identifier":[{"system":"http://www.ncbi.nlm.nih.gov/clinvar","value":"10"},{"system":"http://www.ncbi.nlm.nih.gov/clinvar/scv","value":"SCV000693430.2"}]}},{"name":"implication","resource":{"resourceType":"Observation","id":"dv-62fab6305932091e78bf232f","meta":{"profile":["http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"]},"status":"final","category":[{"coding":[{"system":"http://terminology.hl7.org/CodeSystem/observation-category","code":"laboratory"}]}],"code":{"coding":[{"system":"http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs","code":"diagnostic-implication"}]},"subject":{"reference":"Patient/HG02657"},"derivedFrom":[{"reference":"Observation/dv-e6b9e50014b24ebe81a0504cbba79282"}],"component":[{"code":{"coding":[{"system":"http://loinc.org","code":"53037-8","display":"Genetic variation clinical significance"}]},"valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"LA6668-3","display":"Pathogenic"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"81259-4","display":"predicted phenotype"}]},"valueCodeableConcept":{"coding":[{"system":"https://www.ncbi.nlm.nih.gov/medgen","code":"C3469186","display":"Hemochromatosis type 1"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"93044-6","display":"Level of evidence"}]},"valueCodeableConcept":{"text":"no assertion criteria provided"}}],"identifier":[{"system":"http://www.ncbi.nlm.nih.gov/clinvar","value":"10"},{"system":"http://www.ncbi.nlm.nih.gov/clinvar/scv","value":"SCV000020169.4"}]}},{"name":"implication","resource":{"resourceType":"Observation","id":"dv-62fab6305932091e78bf2330","meta":{"profile":["http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"]},"status":"final","category":[{"coding":[{"system":"http://terminology.hl7.org/CodeSystem/observation-category","code":"laboratory"}]}],"code":{"coding":[{"system":"http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs","code":"diagnostic-implication"}]},"subject":{"reference":"Patient/HG02657"},"derivedFrom":[{"reference":"Observation/dv-e6b9e50014b24ebe81a0504cbba79282"}],"component":[{"code":{"coding":[{"system":"http://loinc.org","code":"53037-8","display":"Genetic variation clinical significance"}]},"valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"LA6668-3","display":"Pathogenic"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"81259-4","display":"predicted phenotype"}]},"valueCodeableConcept":{"coding":[{"system":"https://www.ncbi.nlm.nih.gov/medgen","code":"C3469186","display":"Hemochromatosis type 1"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"93044-6","display":"Level of evidence"}]},"valueCodeableConcept":{"text":"criteria provided, single submitter"}}],"identifier":[{"system":"http://www.ncbi.nlm.nih.gov/clinvar","value":"10"},{"system":"http://www.ncbi.nlm.nih.gov/clinvar/scv","value":"SCV000206973.2"}]}},{"name":"implication","resource":{"resourceType":"Observation","id":"dv-62fab6305932091e78bf2312","meta":{"profile":["http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"]},"status":"final","category":[{"coding":[{"system":"http://terminology.hl7.org/CodeSystem/observation-category","code":"laboratory"}]}],"code":{"coding":[{"system":"http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs","code":"diagnostic-implication"}]},"subject":{"reference":"Patient/HG02657"},"derivedFrom":[{"reference":"Observation/dv-e6b9e50014b24ebe81a0504cbba79282"}],"component":[{"code":{"coding":[{"system":"http://loinc.org","code":"53037-8","display":"Genetic variation clinical significance"}]},"valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"LA6668-3","display":"Pathogenic"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"81259-4","display":"predicted phenotype"}]},"valueCodeableConcept":{"coding":[{"system":"https://www.ncbi.nlm.nih.gov/medgen","code":"C3469186","display":"Hemochromatosis type 1"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"93044-6","display":"Level of evidence"}]},"valueCodeableConcept":{"text":"criteria provided, single submitter"}}],"identifier":[{"system":"http://www.ncbi.nlm.nih.gov/clinvar","value":"10"},{"system":"http://www.ncbi.nlm.nih.gov/clinvar/scv","value":"SCV002499222.1"}]}},{"name":"implication","resource":{"resourceType":"Observation","id":"dv-62fab6305932091e78bf2316","meta":{"profile":["http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"]},"status":"final","category":[{"coding":[{"system":"http://terminology.hl7.org/CodeSystem/observation-category","code":"laboratory"}]}],"code":{"coding":[{"system":"http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs","code":"diagnostic-implication"}]},"subject":{"reference":"Patient/HG02657"},"derivedFrom":[{"reference":"Observation/dv-e6b9e50014b24ebe81a0504cbba79282"}],"component":[{"code":{"coding":[{"system":"http://loinc.org","code":"53037-8","display":"Genetic variation clinical significance"}]},"valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"LA6668-3","display":"Pathogenic"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"81259-4","display":"predicted phenotype"}]},"valueCodeableConcept":{"coding":[{"system":"https://www.ncbi.nlm.nih.gov/medgen","code":"C3469186","display":"Hemochromatosis type 1"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"93044-6","display":"Level of evidence"}]},"valueCodeableConcept":{"text":"no assertion criteria provided"}}],"identifier":[{"system":"http://www.ncbi.nlm.nih.gov/clinvar","value":"10"},{"system":"http://www.ncbi.nlm.nih.gov/clinvar/scv","value":"SCV000245789.1"}]}},{"name":"implication","resource":{"resourceType":"Observation","id":"dv-62fab6305932091e78bf232c","meta":{"profile":["http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"]},"status":"final","category":[{"coding":[{"system":"http://terminology.hl7.org/CodeSystem/observation-category","code":"laboratory"}]}],"code":{"coding":[{"system":"http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs","code":"diagnostic-implication"}]},"subject":{"reference":"Patient/HG02657"},"derivedFrom":[{"reference":"Observation/dv-e6b9e50014b24ebe81a0504cbba79282"}],"component":[{"code":{"coding":[{"system":"http://loinc.org","code":"53037-8","display":"Genetic variation clinical significance"}]},"valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"LA6668-3","display":"Pathogenic"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"81259-4","display":"predicted phenotype"}]},"valueCodeableConcept":{"coding":[{"system":"https://www.ncbi.nlm.nih.gov/medgen","code":"C3469186","display":"Hemochromatosis type 1"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"93044-6","display":"Level of evidence"}]},"valueCodeableConcept":{"text":"criteria provided, single submitter"}}],"identifier":[{"system":"http://www.ncbi.nlm.nih.gov/clinvar","value":"10"},{"system":"http://www.ncbi.nlm.nih.gov/clinvar/scv","value":"SCV000223933.2"}]}},{"name":"implication","resource":{"resourceType":"Observation","id":"dv-62fab6305932091e78bf231f","meta":{"profile":["http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"]},"status":"final","category":[{"coding":[{"system":"http://terminology.hl7.org/CodeSystem/observation-category","code":"laboratory"}]}],"code":{"coding":[{"system":"http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs","code":"diagnostic-implication"}]},"subject":{"reference":"Patient/HG02657"},"derivedFrom":[{"reference":"Observation/dv-e6b9e50014b24ebe81a0504cbba79282"}],"component":[{"code":{"coding":[{"system":"http://loinc.org","code":"53037-8","display":"Genetic variation clinical significance"}]},"valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"LA6668-3","display":"Pathogenic"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"81259-4","display":"predicted phenotype"}]},"valueCodeableConcept":{"coding":[{"system":"https://www.ncbi.nlm.nih.gov/medgen","code":"C3469186","display":"Hemochromatosis type 1"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"93044-6","display":"Level of evidence"}]},"valueCodeableConcept":{"text":"criteria provided, single submitter"}}],"identifier":[{"system":"http://www.ncbi.nlm.nih.gov/clinvar","value":"10"},{"system":"http://www.ncbi.nlm.nih.gov/clinvar/scv","value":"SCV002028310.1"}]}},{"name":"implication","resource":{"resourceType":"Observation","id":"dv-62fab6305932091e78bf231e","meta":{"profile":["http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"]},"status":"final","category":[{"coding":[{"system":"http://terminology.hl7.org/CodeSystem/observation-category","code":"laboratory"}]}],"code":{"coding":[{"system":"http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs","code":"diagnostic-implication"}]},"subject":{"reference":"Patient/HG02657"},"derivedFrom":[{"reference":"Observation/dv-e6b9e50014b24ebe81a0504cbba79282"}],"component":[{"code":{"coding":[{"system":"http://loinc.org","code":"53037-8","display":"Genetic variation clinical significance"}]},"valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"LA6668-3","display":"Pathogenic"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"81259-4","display":"predicted phenotype"}]},"valueCodeableConcept":{"coding":[{"system":"https://www.ncbi.nlm.nih.gov/medgen","code":"C3469186","display":"Hemochromatosis t"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"93044-6","display":"Level of evidence"}]},"valueCodeableConcept":{"text":"criteria provided, single submitter"}}],"identifier":[{"system":"http://www.ncbi.nlm.nih.gov/clinvar","value":"10"},{"system":"http://www.ncbi.nlm.nih.gov/clinvar/scv","value":"SCV000893709.1"}]}},{"name":"implication","resource":{"resourceType":"Observation","id":"dv-62fab6305932091e78bf230e","meta":{"profile":["http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"]},"status":"final","category":[{"coding":[{"system":"http://terminology.hl7.org/CodeSystem/observation-category","code":"laboratory"}]}],"code":{"coding":[{"system":"http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs","code":"diagnostic-implication"}]},"subject":{"reference":"Patient/HG02657"},"derivedFrom":[{"reference":"Observation/dv-e6b9e50014b24ebe81a0504cbba79282"}],"component":[{"code":{"coding":[{"system":"http://loinc.org","code":"53037-8","display":"Genetic variation clinical significance"}]},"valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"LA6668-3","display":"Pathogenic"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"81259-4","display":"predicted phenotype"}]},"valueCodeableConcept":{"coding":[{"system":"https://www.ncbi.nlm.nih.gov/medgen","code":"C3469186","display":"Hemochromatosis type 1"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"93044-6","display":"Level of evidence"}]},"valueCodeableConcept":{"text":"criteria provided, single submitter"}}],"identifier":[{"system":"http://www.ncbi.nlm.nih.gov/clinvar","value":"10"},{"system":"http://www.ncbi.nlm.nih.gov/clinvar/scv","value":"SCV001137061.1"}]}},{"name":"implication","resource":{"resourceType":"Observation","id":"dv-62fab6305932091e78bf2329","meta":{"profile":["http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"]},"status":"final","category":[{"coding":[{"system":"http://terminology.hl7.org/CodeSystem/observation-category","code":"laboratory"}]}],"code":{"coding":[{"system":"http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs","code":"diagnostic-implication"}]},"subject":{"reference":"Patient/HG02657"},"derivedFrom":[{"reference":"Observation/dv-e6b9e50014b24ebe81a0504cbba79282"}],"component":[{"code":{"coding":[{"system":"http://loinc.org","code":"53037-8","display":"Genetic variation clinical significance"}]},"valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"LA6668-3","display":"Pathogenic"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"81259-4","display":"predicted phenotype"}]},"valueCodeableConcept":{"coding":[{"system":"https://www.ncbi.nlm.nih.gov/medgen","code":"C3469186","display":"Hemochromatosis type 1"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"93044-6","display":"Level of evidence"}]},"valueCodeableConcept":{"text":"criteria provided, single submitter"}}],"identifier":[{"system":"http://www.ncbi.nlm.nih.gov/clinvar","value":"10"},{"system":"http://www.ncbi.nlm.nih.gov/clinvar/scv","value":"SCV001251532.1"}]}},{"name":"implication","resource":{"resourceType":"Observation","id":"dv-62fab6305932091e78bf2317","meta":{"profile":["http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"]},"status":"final","category":[{"coding":[{"system":"http://terminology.hl7.org/CodeSystem/observation-category","code":"laboratory"}]}],"code":{"coding":[{"system":"http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs","code":"diagnostic-implication"}]},"subject":{"reference":"Patient/HG02657"},"derivedFrom":[{"reference":"Observation/dv-e6b9e50014b24ebe81a0504cbba79282"}],"component":[{"code":{"coding":[{"system":"http://loinc.org","code":"53037-8","display":"Genetic variation clinical significance"}]},"valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"LA6668-3","display":"Pathogenic"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"81259-4","display":"predicted phenotype"}]},"valueCodeableConcept":{"coding":[{"system":"https://www.ncbi.nlm.nih.gov/medgen","code":"C3469186","display":"Hemochromatosis type 1"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"93044-6","display":"Level of evidence"}]},"valueCodeableConcept":{"text":"criteria provided, single submitter"}}],"identifier":[{"system":"http://www.ncbi.nlm.nih.gov/clinvar","value":"10"},{"system":"http://www.ncbi.nlm.nih.gov/clinvar/scv","value":"SCV001368348.2"}]}},{"name":"implication","resource":{"resourceType":"Observation","id":"dv-62fab6305932091e78bf230d","meta":{"profile":["http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"]},"status":"final","category":[{"coding":[{"system":"http://terminology.hl7.org/CodeSystem/observation-category","code":"laboratory"}]}],"code":{"coding":[{"system":"http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs","code":"diagnostic-implication"}]},"subject":{"reference":"Patient/HG02657"},"derivedFrom":[{"reference":"Observation/dv-e6b9e50014b24ebe81a0504cbba79282"}],"component":[{"code":{"coding":[{"system":"http://loinc.org","code":"53037-8","display":"Genetic variation clinical significance"}]},"valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"LA6668-3","display":"Pathogenic"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"81259-4","display":"predicted phenotype"}]},"valueCodeableConcept":{"coding":[{"system":"https://www.ncbi.nlm.nih.gov/medgen","code":"C3469186","display":"Hemochromatosis type 1"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"93044-6","display":"Level of evidence"}]},"valueCodeableConcept":{"text":"criteria provided, single submitter"}}],"identifier":[{"system":"http://www.ncbi.nlm.nih.gov/clinvar","value":"10"},{"system":"http://www.ncbi.nlm.nih.gov/clinvar/scv","value":"SCV002038504.1"}]}},{"name":"implication","resource":{"resourceType":"Observation","id":"dv-62fab6305932091e78bf2326","meta":{"profile":["http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"]},"status":"final","category":[{"coding":[{"system":"http://terminology.hl7.org/CodeSystem/observation-category","code":"laboratory"}]}],"code":{"coding":[{"system":"http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs","code":"diagnostic-implication"}]},"subject":{"reference":"Patient/HG02657"},"derivedFrom":[{"reference":"Observation/dv-e6b9e50014b24ebe81a0504cbba79282"}],"component":[{"code":{"coding":[{"system":"http://loinc.org","code":"53037-8","display":"Genetic variation clinical significance"}]},"valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"LA6668-3","display":"Pathogenic"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"81259-4","display":"predicted phenotype"}]},"valueCodeableConcept":{"coding":[{"system":"https://www.ncbi.nlm.nih.gov/medgen","code":"C3469186","display":"Hemochromatosis type 1"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"93044-6","display":"Level of evidence"}]},"valueCodeableConcept":{"text":"criteria provided, single submitter"}}],"identifier":[{"system":"http://www.ncbi.nlm.nih.gov/clinvar","value":"10"},{"system":"http://www.ncbi.nlm.nih.gov/clinvar/scv","value":"SCV001519563.1"}]}},{"name":"implication","resource":{"resourceType":"Observation","id":"dv-62fab6305932091e78bf2322","meta":{"profile":["http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"]},"status":"final","category":[{"coding":[{"system":"http://terminology.hl7.org/CodeSystem/observation-category","code":"laboratory"}]}],"code":{"coding":[{"system":"http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs","code":"diagnostic-implication"}]},"subject":{"reference":"Patient/HG02657"},"derivedFrom":[{"reference":"Observation/dv-e6b9e50014b24ebe81a0504cbba79282"}],"component":[{"code":{"coding":[{"system":"http://loinc.org","code":"53037-8","display":"Genetic variation clinical significance"}]},"valueCodeableConcept":{"coding":[{"system":"http://loinc.org","code":"LA6668-3","display":"Pathogenic"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"81259-4","display":"predicted phenotype"}]},"valueCodeableConcept":{"coding":[{"system":"https://www.ncbi.nlm.nih.gov/medgen","code":"C3469186","display":"Hemochromatosis type 1"}]}},{"code":{"coding":[{"system":"http://loinc.org","code":"93044-6","display":"Level of evidence"}]},"valueCodeableConcept":{"text":"criteria provided, single submitter"}}],"identifier":[{"system":"http://www.ncbi.nlm.nih.gov/clinvar","value":"10"},{"system":"http://www.ncbi.nlm.nih.gov/clinvar/scv","value":"SCV001194094.2"}]}}]}
