ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.531C>T (p.Arg177=) (rs368035400)

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
Ambry Genetics RCV000620111 SCV000740214 likely benign Cardiovascular phenotype 2017-08-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000607586 SCV000744874 likely benign Familial hypertrophic cardiomyopathy 4 2017-06-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000607586 SCV000733069 likely benign Familial hypertrophic cardiomyopathy 4 no assertion criteria provided clinical testing
GeneDx RCV000158065 SCV000208000 benign not specified 2014-04-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000456567 SCV000558168 likely benign Hypertrophic cardiomyopathy 2017-11-30 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.