Submissions for variant NM_002471.4(MYH6):c.4778A>T (p.Gln1593Leu)

gnomAD frequency: 0.03900  dbSNP: rs45574136

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000037515	SCV000051570	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037515	SCV000061173	benign	not specified	2011-12-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000037515	SCV000308982	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000253963	SCV000318296	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	RCV000037515	SCV000515345	benign	not specified	2016-10-24	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	RCV000471328	SCV000557915	benign	Hypertrophic cardiomyopathy 14	2025-02-04	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000037515	SCV000740604	benign	not specified	2016-06-15	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004706463	SCV005232847	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000037515	SCV001922849	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000037515	SCV001926429	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037515	SCV001957025	benign	not specified		no assertion criteria provided	clinical testing