Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0: STU3) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions

Example Observation: EGFR-L858R-molc

Generated Narrative: Observation EGFR-L858R-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

component

code: coding HGVS

value: NM_005228.4:c.2573T>G

component

code: Feature Consequence

value: missense_variant

component

code: Amino acid change (pHGVS)

value: NP_005219.2:p.Leu858Arg