Submissions for variant NM_002471.4(MYH6):c.3909G>C (p.Leu1303=)

gnomAD frequency: 0.00001  dbSNP: rs572682388

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000876140	SCV001018668	likely benign	Hypertrophic cardiomyopathy 14	2024-04-10	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001193647	SCV001362623	benign	not specified	2019-11-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002372491	SCV002623951	likely benign	Cardiovascular phenotype	2021-02-10	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.
Clinical Genetics, Academic Medical Center	RCV001193647	SCV001921899	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001726359	SCV001963388	likely benign	not provided		no assertion criteria provided	clinical testing