Submissions for variant NM_000257.4(MYH7):c.1671G>A (p.Leu557=)

gnomAD frequency: 0.00007  dbSNP: rs149386750

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000532488	SCV000623650	likely benign	Hypertrophic cardiomyopathy	2025-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620358	SCV000740217	likely benign	Cardiovascular phenotype	2017-10-17	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	RCV000772097	SCV000905132	likely benign	Cardiomyopathy	2018-10-02	criteria provided, single submitter	clinical testing
GeneDx	RCV001597154	SCV001830865	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000772097	SCV002042255	likely benign	Cardiomyopathy	2022-11-29	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000772097	SCV004817283	likely benign	Cardiomyopathy	2023-12-13	criteria provided, single submitter	clinical testing