Submissions for variant NM_000257.4(MYH7):c.396G>T (p.Pro132=)

dbSNP: rs138932714

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035875	SCV000059526	likely benign	not specified	2008-03-01	criteria provided, single submitter	clinical testing
Invitae	RCV000862509	SCV001003023	benign	Hypertrophic cardiomyopathy	2024-01-15	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001171223	SCV001333925	likely benign	Cardiomyopathy	2018-02-16	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000035875	SCV001338618	likely benign	not specified	2020-04-04	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001171223	SCV001339287	likely benign	Cardiomyopathy	2018-03-05	criteria provided, single submitter	clinical testing
GeneDx	RCV001618224	SCV001846428	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002482968	SCV002799859	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	2021-08-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001618224	SCV004042580	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	MYH7: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004534745	SCV004713499	likely benign	MYH7-related disorder	2020-10-05	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Ambry Genetics	RCV004018777	SCV004943800	likely benign	Cardiovascular phenotype	2020-03-27	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.