ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2163C>T (p.Thr721=)

gnomAD frequency: 0.00002  dbSNP: rs397515951
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035469 SCV000059117 likely benign not specified 2008-03-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001185549 SCV001351798 likely benign Cardiomyopathy 2018-11-30 criteria provided, single submitter clinical testing
Invitae RCV001487079 SCV001691563 likely benign Hypertrophic cardiomyopathy 2023-11-19 criteria provided, single submitter clinical testing
GeneDx RCV001668152 SCV001888740 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162300 SCV003911241 likely benign Cardiovascular phenotype 2022-11-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.