Submissions for variant NM_002471.4(MYH6):c.4914T>C (p.Ala1638=)

gnomAD frequency: 0.52673  dbSNP: rs178640

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037521	SCV000061179	benign	not specified	2011-09-16	criteria provided, single submitter	clinical testing	This variant is classified as benign because it does not change the amino acid a nd is frequent in the general population (rs178640, MAF >1%).
PreventionGenetics, part of Exact Sciences	RCV000037521	SCV000308984	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000252865	SCV000317577	benign	Cardiovascular phenotype	2015-06-12	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001705676	SCV000604361	benign	not provided	2024-11-20	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000037521	SCV000740602	benign	not specified	2016-05-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001513924	SCV001721630	benign	Hypertrophic cardiomyopathy 14	2025-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001705676	SCV001833950	benign	not provided	2019-07-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001705676	SCV005232845	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000037521	SCV001741341	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037521	SCV001925342	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037521	SCV001952820	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000037521	SCV001973066	benign	not specified		no assertion criteria provided	clinical testing