Submissions for variant NM_002471.4(MYH6):c.166G>A (p.Gly56Arg)

gnomAD frequency: 0.06950  dbSNP: rs28711516

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000037445	SCV000051573	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037445	SCV000061103	benign	not specified	2011-09-16	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000037445	SCV000228991	benign	not specified	2015-02-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000037445	SCV000308964	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000250931	SCV000317860	benign	Cardiovascular phenotype	2015-06-29	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000420685	SCV000511677	benign	not provided	2016-07-22	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000037445	SCV000740600	benign	not specified	2016-05-13	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000420685	SCV000885779	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Invitae	RCV001511451	SCV001718695	benign	Hypertrophic cardiomyopathy 14	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000420685	SCV001938266	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23299917, 22429680, 27884173, 15998695, 33232181)
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000037445	SCV001744515	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037445	SCV001919131	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000420685	SCV001927104	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037445	SCV001953756	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000037445	SCV001969244	benign	not specified		no assertion criteria provided	clinical testing