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: MSH2-del-var

Generated Narrative: Observation

ResourceObservation "MSH2-del-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: Transcript reference sequence [ID] (LOINC#51958-7)

value: NM_006885.4 (Gene Reference Sequence Collection#NM_006885.4)

component

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

value: deletion (sequenceontology.org#SO:0000159)

component

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

value: MSH2 (HUGO Gene Nomenclature Committee Genes#HGNC:7235)

component

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

value: NM_000251.3(MSH2):c.1832del (p.Val611fs) (ClinVar Variant ID#1780982)

component

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

value: Somatic (LOINC#LA6684-0)