Submissions for variant NM_000257.4(MYH7):c.1608G>A (p.Glu536=)

gnomAD frequency: 0.00003  dbSNP: rs397516115

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035735	SCV000059386	likely benign	not specified	2009-07-13	criteria provided, single submitter	clinical testing
GeneDx	RCV001535411	SCV000522924	likely benign	not provided	2019-07-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001437627	SCV001640485	likely benign	Hypertrophic cardiomyopathy	2023-06-09	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001524576	SCV001734472	likely benign	Cardiomyopathy	2021-01-12	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490485	SCV002795160	likely benign	Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy	2021-12-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003298052	SCV003993377	likely benign	Cardiovascular phenotype	2023-04-08	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.