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 https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions
Generated Narrative: Observation NTHL1-snv-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_002528.7:c.728G>A
component
code: Feature Consequence
value: nonsense codon
component
code: Amino acid change (pHGVS)
value: NP_002519.2:p.Trp243Ter