Submissions for variant NM_000257.4(MYH7):c.1332T>C (p.Asn444=)

gnomAD frequency: 0.00004  dbSNP: rs397516099

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035715	SCV000059366	likely benign	not specified	2008-10-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000829024	SCV000970734	likely benign	not provided	2018-04-23	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	RCV001084901	SCV001009308	likely benign	Hypertrophic cardiomyopathy	2023-11-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002381293	SCV002693087	likely benign	Cardiovascular phenotype	2022-05-17	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.
Color Diagnostics, LLC DBA Color Health	RCV003531915	SCV004356949	likely benign	Cardiomyopathy	2021-10-01	criteria provided, single submitter	clinical testing
Cohesion Phenomics	RCV001084901	SCV003803693	benign	Hypertrophic cardiomyopathy	2022-09-27	no assertion criteria provided	clinical testing