Submissions for variant NM_002471.4(MYH6):c.622G>A (p.Asp208Asn)

gnomAD frequency: 0.00415  dbSNP: rs142027794

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000037537	SCV000051572	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037537	SCV000061195	likely benign	not specified	2014-12-10	criteria provided, single submitter	clinical testing	p.Asp208Asn in exon 7 of MYH6: This variant is not expected to have clinical sig nificance because it has been identified in 0.8% (554/67686) of European chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs142027794).
Invitae	RCV001083054	SCV000287440	benign	Hypertrophic cardiomyopathy 14	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000037537	SCV000515477	benign	not specified	2016-11-07	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.
Ambry Genetics	RCV000618320	SCV000735320	likely benign	Cardiovascular phenotype	2018-06-07	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770456	SCV000901899	benign	Cardiomyopathy	2017-09-29	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000845323	SCV000987368	likely benign	not provided		criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852698	SCV000995411	benign	Heart failure	2017-03-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000845323	SCV002049320	benign	not provided	2023-08-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000845323	SCV002822116	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	MYH6: BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000845323	SCV001742581	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000845323	SCV001799694	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037537	SCV001923759	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000845323	SCV001926867	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037537	SCV001959610	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000037537	SCV001974302	benign	not specified		no assertion criteria provided	clinical testing