Submissions for variant NM_002471.4(MYH6):c.4527G>A (p.Glu1509=)

gnomAD frequency: 0.02632  dbSNP: rs34855944

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037509	SCV000061167	benign	not specified	2012-05-24	criteria provided, single submitter	clinical testing	7.3% (273/3738) of Afr Amer chrom in ESP
PreventionGenetics, part of Exact Sciences	RCV000037509	SCV000308980	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000248057	SCV000317519	benign	Cardiovascular phenotype	2015-07-08	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
GeneDx	RCV000037509	SCV000515343	benign	not specified	2016-10-13	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000466312	SCV000557880	benign	Hypertrophic cardiomyopathy 14	2025-02-04	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000037509	SCV000740609	benign	not specified	2017-07-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811260	SCV001472942	benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001811260	SCV005232850	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000037509	SCV001919952	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000037509	SCV001930244	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037509	SCV001959223	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000037509	SCV001974860	benign	not specified		no assertion criteria provided	clinical testing