Submissions for variant NM_000257.4(MYH7):c.714C>T (p.Asn238=)

gnomAD frequency: 0.00006  dbSNP: rs202141819

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127016	SCV000170549	benign	not specified	2014-03-26	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.
Eurofins Ntd Llc (ga)	RCV000726150	SCV000342462	uncertain significance	not provided	2016-06-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617569	SCV000735205	likely benign	Cardiovascular phenotype	2016-01-13	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	RCV001182252	SCV001347641	likely benign	Cardiomyopathy	2018-10-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001435760	SCV001638586	likely benign	Hypertrophic cardiomyopathy	2023-12-13	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV001182252	SCV004815059	likely benign	Cardiomyopathy	2024-01-11	criteria provided, single submitter	clinical testing