Submissions for variant NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln)

gnomAD frequency: 0.00217  dbSNP: rs34935550

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172561	SCV000051404	likely benign	not provided	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037485	SCV000061143	benign	not specified	2015-05-20	criteria provided, single submitter	clinical testing	p.Glu1295Gln in exon 28 of MYH6: This variant is not expected to have clinical s ignificance because it has been identified in 1.7% (151/8650) of East Asian chro mosomes, including 1 homozygote, by the Exome Aggregation Consortium (ExAC, http ://exac.broadinstitute.org; dbSNP rs34935550).
Ambry Genetics	RCV000253033	SCV000317520	benign	Cardiovascular phenotype	2015-10-27	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	RCV000037485	SCV000527969	benign	not specified	2016-11-10	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.
Invitae	RCV001086651	SCV000557886	benign	Hypertrophic cardiomyopathy 14	2024-01-29	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000172561	SCV000610331	likely benign	not provided	2017-05-30	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000037485	SCV000740614	likely benign	not specified	2016-08-31	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769410	SCV000900803	benign	Cardiomyopathy	2017-04-21	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852695	SCV000995406	benign	Restrictive cardiomyopathy; Hypertrophic cardiomyopathy	2019-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000172561	SCV001474494	benign	not provided	2023-09-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000172561	SCV005074449	benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	MYH6: BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000172561	SCV001743493	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037485	SCV001918756	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000037485	SCV001932848	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037485	SCV001954960	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000037485	SCV001967925	benign	not specified		no assertion criteria provided	clinical testing