Clinical Domain Working Groups

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Cardiomyopathy Variant Curation Expert Panel

Affiliated to Cardiovascular CDWG
Membership Documents

Scope of Work

Adapt ACMG classification criteria for genes associated with inherited cardiomyopathy

  • Phase 1: MYH7 for HCM, DCM.
  • Phase 2: Evaluate applicability of the rules developed for MYH7 for other HCM genes, including MYBPC3, MYL2, MYL3, TNNT2, TPM1, TNNI3, ACTC1.
  • Future Aims: Adapting rules and specifications for other gene with a definitive association with hypertrophic cardiomyopathy as determined from the Hereditary Cardiovascular Diseases GCEP.

 

View the criteria specifications for this VCEP in ClinGen's Criteria Specification Registry (CSpec).
View all variant classifications approved by this VCEP.
View the ClinVar submitter page for this VCEP.

Expert Panel Status

Step 1
Step 2
Step 3
Step 4
Define Group
Completed
Develop Classification Rules
Completed
Pilot Rules
Completed
Expert Panel Approval
Completed Apr. 2017

Documents

Expert Panel Membership

Membership spans many fields, including genetics, medical, academia, and industry.

Chairs

Coordinators

Chairs
Lucas Bronicki, PhD, FACMG, DABMGG
Coordinators
Please contact a coordinator if you have questions.
Haley Garrett, MPH
haley_garrett@med.unc.edu