Submissions for variant NM_000257.4(MYH7):c.503-4A>G

gnomAD frequency: 0.00002  dbSNP: rs376022200

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000869650	SCV001011094	likely benign	Hypertrophic cardiomyopathy	2024-11-05	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001180290	SCV001345177	likely benign	Cardiomyopathy	2018-11-16	criteria provided, single submitter	clinical testing
GeneDx	RCV001650976	SCV001864866	likely benign	not provided	2019-04-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002336261	SCV002644366	likely benign	Cardiovascular phenotype	2022-07-25	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.
All of Us Research Program, National Institutes of Health	RCV001180290	SCV004822532	uncertain significance	Cardiomyopathy	2023-08-15	criteria provided, single submitter	clinical testing
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology	RCV000148986	SCV000154235	unknown	Familial cardiomyopathy		no assertion criteria provided	not provided	Converted during submission to Uncertain significance.
PreventionGenetics, part of Exact Sciences	RCV004542870	SCV004766394	likely benign	MYH7-related disorder	2023-01-03	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).