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 https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

Example Observation: NTHL1-snv-var

Generated Narrative: Observation

ResourceObservation "NTHL1-snv-var"

Profile: Variant

status: final

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Genetic variant assessment (LOINC#69548-6)

subject: Patient/somaticPatient " HAMSBURG"

effective: 2023-02-01

performer: Practitioner/pathologistPractitioner " DOLIN"

value: Present (LOINC#LA9633-4)

method: Sequencing (LOINC#LA26398-0)

component

code: Amino acid change (pHGVS) (LOINC#48005-3)

value: NP_002519.2:p.Trp243Ter (Human Genome Variation Society nomenclature#NP_002519.2:p.Trp243Ter)

component

code: DNA change type (LOINC#48019-4)

value: SNV (sequenceontology.org#SO:0001483)

component

code: DNA change (c.HGVS) (LOINC#48004-6)

value: NM_002528.7:c.728G>A (Human Genome Variation Society nomenclature#NM_002528.7:c.728G>A)

component

code: Gene studied [ID] (LOINC#48018-6)

value: NTHL1 (HUGO Gene Nomenclature Committee Genes#HGNC:8028)

component

code: Discrete genetic variant (LOINC#81252-9)

value: NM_002528.7(NTHL1):c.728G>A (p.Trp243Ter) (ClinVar Variant ID#962538)

component

code: Genomic DNA change (gHGVS) (LOINC#81290-9)

value: NC_000016.10:g.2040196C>T (Human Genome Variation Society nomenclature#NC_000016.10:g.2040196C>T)

component

code: Genomic source class [Type] (LOINC#48002-0)

value: Somatic (LOINC#LA6684-0)