ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2136G>A (p.Val712=)

dbSNP: rs876657511
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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 RCV000216398 SCV000270424 likely benign not specified 2015-07-28 criteria provided, single submitter clinical testing p.Val712Val in exon 22 of MYBPC3: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence.
Color Diagnostics, LLC DBA Color Health RCV000771959 SCV000904913 likely benign Cardiomyopathy 2018-06-04 criteria provided, single submitter clinical testing
Invitae RCV000937836 SCV001083629 likely benign Hypertrophic cardiomyopathy 2019-10-29 criteria provided, single submitter clinical testing

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.