Submissions for variant NM_002471.4(MYH6):c.1989C>T (p.Asn663=)

gnomAD frequency: 0.00451  dbSNP: rs28730774

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037451	SCV000061109	benign	not specified	2012-02-22	criteria provided, single submitter	clinical testing	Asn663Asn in exon 17 of MYH6: This variant is not expected to have clinical sign ificance because it does not change an amino acid residue and has been identifie d in 0.7% (51/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs28 730774).
Eurofins Ntd Llc (ga)	RCV000037451	SCV000226606	likely benign	not specified	2015-02-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000231283	SCV000287398	benign	Hypertrophic cardiomyopathy 14	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000248032	SCV000318220	likely benign	Cardiovascular phenotype	2015-05-06	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV000037451	SCV000515440	benign	not specified	2016-11-17	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769420	SCV000900813	benign	Cardiomyopathy	2016-03-11	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001528689	SCV001473130	benign	not provided	2023-09-28	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496587	SCV002811843	likely benign	Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to	2021-09-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001528689	SCV004010265	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	MYH6: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001528689	SCV005211383	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528689	SCV001740856	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037451	SCV001923344	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037451	SCV001957814	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528689	SCV001972500	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004534785	SCV004751460	benign	MYH6-related disorder	2020-11-16	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).