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
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 ()