Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 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
Active as of 2024-11-19 |
Examples for the molecular-consequence Profile.
ATR-insertion-molc |
EGFR-L858R-molc |
MSH2-del-molc |
NOTCH1-uncertain-molc |
NTHL1-snv-molc |
ROS1-Fusion |
STAG2-insertion-molc |
ZFHX3-uncertain-molc |
molec-conseq1 |
molec-conseq2 |
molec-conseq3 |
molec-conseq4 |