Submissions for variant NM_000257.4(MYH7):c.633G>A (p.Pro211=)

gnomAD frequency: 0.00004  dbSNP: rs587781087

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127015	SCV000170548	benign	not specified	2011-07-18	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.
Invitae	RCV000472231	SCV000557955	likely benign	Hypertrophic cardiomyopathy	2024-01-18	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000771893	SCV000904657	likely benign	Cardiomyopathy	2018-10-16	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000127015	SCV000919834	likely benign	not specified	2019-08-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362767	SCV002657283	likely benign	Cardiovascular phenotype	2019-11-01	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences	RCV003945135	SCV004760013	likely benign	MYH7-related condition	2023-02-27	criteria provided, single submitter	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).