Submissions for variant NM_000256.3(MYBPC3):c.960C>T (p.Asp320=)

gnomAD frequency: 0.00002  dbSNP: rs369900803

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035688	SCV000059339	likely benign	not specified	2008-03-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000035688	SCV000529509	likely benign	not specified	2016-07-13	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.
Color Diagnostics, LLC DBA Color Health	RCV001188365	SCV001355414	likely benign	Cardiomyopathy	2018-12-01	criteria provided, single submitter	clinical testing
Invitae	RCV002054568	SCV002441767	likely benign	Hypertrophic cardiomyopathy	2022-11-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002381292	SCV002695702	likely benign	Cardiovascular phenotype	2020-01-24	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.