Submissions for variant NM_002471.4(MYH6):c.86G>A (p.Arg29Gln)

gnomAD frequency: 0.00455  dbSNP: rs150574114

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000151227	SCV000051408	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151227	SCV000199094	benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Arg29Gln in Exon 03 of MYH6: This variant is not expected to have clinical sig nificance because it has been identified in 1.9% (70/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs150574114).
Invitae	RCV000757526	SCV000287442	benign	Hypertrophic cardiomyopathy 14	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000246156	SCV000318583	benign	Cardiovascular phenotype	2016-03-29	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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	RCV000151227	SCV000515472	benign	not specified	2016-11-21	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001723713	SCV000885781	benign	not provided	2019-11-20	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770461	SCV000901904	benign	Cardiomyopathy	2017-09-07	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000770461	SCV000995412	benign	Cardiomyopathy	2018-04-23	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000151227	SCV001741589	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000151227	SCV001917199	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723713	SCV001956821	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000151227	SCV001966772	benign	not specified		no assertion criteria provided	clinical testing