ENIGMA Classification Criteria

On August 3, 2023 the ClinGen ENIGMA BRCA1/2 Variant Curation Expert Panel (VCEP) was officially approved to conduct sustained variant curation for BRCA1 and BRCA2. The most up-to-date VCEP specifications for application of ACMG/AMP criteria for these genes are available via these links:

BRCA1

BRCA2

The classification rules previously developed and applied by the ENIGMA group acting as a ClinGen external panel are no longer in use, but are provided here for reference purposes

 

ENIGMA members lead and/or contribute to additional VCEPs, including the Hereditary Breast Ovarian Pancreatic (ATM, BARD1, BRIP1, CHEK2, RAD51C, RAD51D, and PALB2) and TP53, among others. The most up-to-date VCEP specifications for application of ACMG/AMP criteria for additional genes are available via this general link.