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: ATR-insertion-significance

Generated Narrative: Observation

Resource Observation "ATR-insertion-significance"

Profile: Diagnostic Implication

status: final

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

code: Diagnostic Implication (To Be Determined Codes#diagnostic-implication)

subject: Patient/somaticPatient " HAMSBURG"

effective: 2023-02-01

performer: Practitioner/pathologistPractitioner " DOLIN"

derivedFrom: Observation/ATR-insertion-var

component

code: Genetic variation clinical significance [Imp] (LOINC#53037-8)

value: Likely Pathogenic (LOINC#LA26332-9)

component

Related Artifact for Observation component:

code: Level of evidence (LOINC#93044-6)

value: Tier 2C ()

component

Related Artifact for Observation component:

code: Conclusion Text (To Be Determined Codes#conclusion-string)

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

component

Related Artifact for Observation component:

code: Level of evidence (LOINC#93044-6)

value: Tier 2C ()