Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of and changes regularly. See the Directory of published versions

Example Observation: STAG2-insertion-molc

Generated Narrative: Observation STAG2-insertion-molc

status: Final

category: Laboratory, Genetics

code: Molecular Consequence

subject: Adam B. Everyman Male, DoB: 1951-01-20 ( Medical Record Number: m123 (use: usual, ))

effective: 2023-02-01

performer: Practitioner Test Dolin

derivedFrom: Observation Genetic variant assessment


code: coding HGVS

value: NM_006603.5:c.3530_3531insGTGACTATTAATAT


code: Transcript reference sequence [ID]

value: NM_006603.5


code: Feature Consequence

value: frameshift_variant


code: Amino acid change (pHGVS)

value: NP_006594.3:p.S1178*