There is a newer version of the record available.

Published December 12, 2025 | Version 1.2.2
Standard Open

The Coronary Heart Disease VCEP ClinGen Variant Classification Specification for Gene BRCA1, version 1.2.2

Authors/Creators

  • 1. Boston University
  • 2. University of California, San Francisco
  • 3. National Institutes of Health (NIH)

Contributors

  • 1. National Institutes of Health (NIH)
  • 2. The Clinical Genome Resource (ClinGen)

Description

This specification publication has been approved for release by the Coronary Heart Disease Variant Classification Expert Panel subcommittee of the Clinical Genome Resource. It has completed the ClinGen change control and review processes. It is a v4 specification, using the ClinGen/ACMG v4 base classification ({doi}) as its foundation.

Usage subject to the Clinical Genome Resource's Terms of Use (https://clinicalgenome.org/docs/terms-of-use/) which employs the CC0 1.0 Universal (CC0 1.0) Public Domain Dedication.

"

Files

Files (847 Bytes)

Name Size Download all
md5:66c323ed18d105964dbed7f49a5d61a4
847 Bytes Download

Additional details

Related works

Is new version of
10.5072/zenodo.1234567 (DOI)
https://cspec.clinicalgenome.org/cspec/api/SequenceVariantInterpretation/id/GN002 (URL)

Dates

Accepted
2025-12-17/2025-12-17
This publication update was approved [accepted] for release on this date.