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: molec-conseq1

Generated Narrative: Observation

ResourceObservation "molec-conseq1"

Profile: Molecular Consequence

status: final

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

code: Molecular Consequence (To Be Determined Codes#molecular-consequence)

subject: Patient/HG00403 " EVERYONE"

effective: 2023-06-01

performer: Organization/ExampleLab "Some lab"

interpretation: High (#impact-prediction#HIGH)

derivedFrom: Observation/variant-with-molec-consequences


code: Transcript reference sequence [ID] (LOINC#51958-7)

value: NM_001395525.1 (Gene Reference Sequence Collection#NM_001395525.1)


code: Feature Consequence (To Be Determined Codes#feature-consequence)

value: splice_donor_variant (; "intron_variant")


code: Functional Effect (To Be Determined Codes#functional-effect)

value: loss_of_function_variant (