Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0: STU3) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions

Example Observation: ATR-insertion-significance

Generated Narrative: Observation ATR-insertion-significance

status: Final

category: Laboratory, Genetics

code: Diagnostic Implication

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

derivedFrom: Observation Genetic variant assessment

component

code: Genetic variation clinical significance [Imp]

value: Likely Pathogenic

component

Related Artifact for Observation component: No display for RelatedArtifact (type: citation; url: https://www.jmdjournal.org/cms/attachment/ee43a71b-81de-4cb3-ac5e-2fb9a7d41491/gr2.jpg)

code: Level of evidence

value: Tier 2C

component

Related Artifact for Observation component: No display for RelatedArtifact (type: citation; url: https://www.ncbi.nlm.nih.gov/gene/545#:~:text=ATR%20may%20function%20as%20an,radiation%20when%20ATM%20is%20deficient)

code: Conclusion Text

value: The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved ... more