Submissions for variant NM_000257.4(MYH7):c.3408C>T (p.Arg1136=)

gnomAD frequency: 0.00001  dbSNP: rs947702752

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001443459	SCV001646430	likely benign	Hypertrophic cardiomyopathy	2024-05-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002456744	SCV002614994	likely benign	Cardiovascular phenotype	2020-06-15	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	RCV004808053	SCV005430868	likely benign	Cardiomyopathy	2024-03-24	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699789	SCV001924992	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702098	SCV001929527	likely benign	not provided		no assertion criteria provided	clinical testing