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: NTHL1-snv-var

Generated Narrative: Observation NTHL1-snv-var

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Substance Junior Hamsburg (official) Male, DoB: 1987-09-01 ( Medical record number: 1234567 (use: temp, period: 2021-01-01 --> (ongoing)))

effective: 2023-02-01

performer: Practitioner Test Dolin

value: Present

method: Sequencing


code: Amino acid change (pHGVS)

value: NP_002519.2:p.Trp243Ter


code: DNA change type

value: SNV


code: DNA change (c.HGVS)

value: NM_002528.7:c.728G>A


code: Gene studied [ID]

value: NTHL1


code: Discrete genetic variant

value: NM_002528.7(NTHL1):c.728G>A (p.Trp243Ter)


code: Genomic DNA change (gHGVS)

value: NC_000016.10:g.2040196C>T


code: Genomic source class [Type]

value: Somatic