Genomics Reporting Implementation Guide
1.1.0 - Ballot

This page is part of the Genetic Reporting Implementation Guide (v1.1.0: STU 2 Ballot 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

Example Observation: Example - ACMG Screening result

Generated Narrative

category: Laboratory

code: Diagnostic Implication

derivedFrom: Generated Summary: Laboratory; Genetic variant assessment; effective: 2019-04-01; Present; Sequencing

component

code: Genetic variation clinical significance [Imp]

value: Pathogenic

component

code: Associated phenotype

value: Familial hypercholesterolemia (disorder)