Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

Example Observation: molec-conseq1

Generated Narrative: Observation

Resource Observation "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

component

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

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

component

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

value: splice_donor_variant (sequenceontology.org#SO:0001575; sequenceontology.org#SO:0001627 "intron_variant")

component

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

value: loss_of_function_variant (sequenceontology.org#SO_0002054)