Submissions for variant NM_002471.4(MYH6):c.5652C>T (p.Ala1884=)

gnomAD frequency: 0.00062  dbSNP: rs200662317

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000727014	SCV000534368	likely benign	not provided	2021-09-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079496	SCV000557877	benign	Hypertrophic cardiomyopathy 14	2024-01-20	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000727014	SCV000704929	uncertain significance	not provided	2017-01-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617875	SCV000736044	likely benign	Cardiovascular phenotype	2023-11-07	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000423727	SCV001519617	benign	not specified	2021-03-13	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798780	SCV002043201	benign	Cardiomyopathy	2019-09-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000727014	SCV004129057	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	MYH6: BP4, BP7, BS1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000727014	SCV001739858	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000423727	SCV001921832	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000423727	SCV001931445	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000423727	SCV001953021	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000727014	SCV001975340	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004544553	SCV004799199	benign	MYH6-related disorder	2019-05-02	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).