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Consulting the auditΒΆ

There is a history of user interpretation and case comment actions provided within the classification drawer on the variant grid and details pages, and the case comment history on the reporting page. To obtain copies of audit logs, please contact the Genomics England Service Desk. A member of the team at Genomics England will be able to generate a report.

Abbreviations
Abbreviation Definition
ACGS Association for Clinical Genomic Science
ACMG American College of Medical Genetics and Genomics
CDS Coding DNA Sequence
CNV Copy Number Variant
CVA Clinical Variant Ark
New IB New Interpretation Browser
GEL Genomics England
GMS Genomic Medicine Service
GLH Genomic Laboratory Hub
HGVS Human Genome Variation Society
HTML Hyper Text Markup Language
HSCN Health and Social Care Network (N3)
IGV Integrative Genomics Viewer
IP Interpretation Portal
NGIS National Genomics Informatics System
PID Patient Identifiable Data
QC Quality Control
SO Sequence Ontology
SNV Single Nucleotide Variant
SV Structural Variant
TOMS Test Order Management Service
UAT User Acceptance Testing
VCF Variant Call Format File
WGS Whole Genome Sequencing