Submissions for variant NM_000257.4(MYH7):c.1482T>C (p.Phe494=)

gnomAD frequency: 0.00003  dbSNP: rs587781088

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127025	SCV000170558	benign	not specified	2014-04-09	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000528339	SCV000623644	likely benign	Hypertrophic cardiomyopathy	2025-01-23	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001188953	SCV001356144	likely benign	Cardiomyopathy	2018-11-21	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000127025	SCV001623282	likely benign	not specified	2021-05-16	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001188953	SCV004239439	likely benign	Cardiomyopathy	2023-06-06	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV001188953	SCV004819191	likely benign	Cardiomyopathy	2023-12-01	criteria provided, single submitter	clinical testing