ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys) (rs397516063)

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, Partners HealthCare Personalized Medicine RCV000035653 SCV000059304 uncertain significance not specified 2014-06-25 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Ambry Genetics RCV000245767 SCV000320166 uncertain significance Cardiovascular phenotype 2017-04-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000463175 SCV000558163 likely benign not provided 2018-04-03 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852654 SCV000995360 likely benign Cardiomyopathy 2018-03-22 criteria provided, single submitter clinical testing
Mendelics RCV000988553 SCV001138317 uncertain significance Familial hypertrophic cardiomyopathy 4 2019-05-28 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.