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 - Variant1

Generated Narrative

category: Laboratory

code: Genetic variant assessment

subject: Generated Summary: Medical Record Number: m123 (USUAL); Adam B. Everyman ; gender: male; birthDate: 1951-01-20

effective: 2019-04-01

value: Present

interpretation: Positive (qualifier value)

method: Sequencing

component

code: Gene studied [ID]

value: STK11

component

code: Discrete genetic variant

value: NC_000019.8:g.1171707G>A

component

code: Genomic source class [Type]

value: Somatic