PROTECT-CHILD Pediatric Transplant Data Implementation Guide, published by Protect Child. This guide is not an authorized publication; it is the continuous build for version 0.1.0-ci-build built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/hl7-eu/protect-child/ and changes regularly. See the Directory of published versions
Profile: Variant Annotation
Variant occurrence ID relationship: Basic Single nucleotide variant
Annotation database: ClinVar
Variant origin: germline
Variant pathogenicity: pathogenic
Variant class level: ACMG Class 5
Variant tier level: Tier 1
Allele frequency: 0.0001
Medication: PARP inhibitor
identifier: https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/NamingSystem/variant-annotation-id/VA0001
code: Clinical variant annotation