Submissions for variant NM_000257.4(MYH7):c.5253T>C (p.Ala1751=)

gnomAD frequency: 0.00004  dbSNP: rs776282574

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001702459	SCV000515311	likely benign	not provided	2020-01-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000456375	SCV000557982	likely benign	Hypertrophic cardiomyopathy	2024-10-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617399	SCV000739975	likely benign	Cardiovascular phenotype	2016-06-30	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.
Color Diagnostics, LLC DBA Color Health	RCV000772001	SCV000904957	likely benign	Cardiomyopathy	2018-10-21	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000772001	SCV002042693	likely benign	Cardiomyopathy	2020-07-27	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001723986	SCV002547937	likely benign	not specified	2022-05-16	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000772001	SCV004819221	likely benign	Cardiomyopathy	2023-12-13	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702459	SCV001928938	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723986	SCV001952588	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004539788	SCV004780936	likely benign	MYH7-related disorder	2020-08-31	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).