Submissions for variant NM_000256.3(MYBPC3):c.3003C>T (p.Pro1001=)

gnomAD frequency: 0.00005  dbSNP: rs397515996

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035548	SCV000059198	likely benign	not specified	2007-02-08	criteria provided, single submitter	clinical testing
Invitae	RCV000863844	SCV001004566	likely benign	Hypertrophic cardiomyopathy	2024-01-28	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001180863	SCV001345904	likely benign	Cardiomyopathy	2019-03-24	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000035548	SCV001437401	likely benign	not specified	2020-09-06	criteria provided, single submitter	clinical testing
GeneDx	RCV001711365	SCV001940799	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002433493	SCV002748845	likely benign	Cardiovascular phenotype	2019-05-07	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.