Submissions for variant NM_000257.4(MYH7):c.4515G>T (p.Leu1505=)

dbSNP: rs397516219

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035916	SCV000059567	likely benign	not specified	2014-10-28	criteria provided, single submitter	clinical testing	p.Leu1505Leu in exon 32 of MYH7: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence.
Color Diagnostics, LLC DBA Color Health	RCV001175853	SCV001339631	likely benign	Cardiomyopathy	2018-11-08	criteria provided, single submitter	clinical testing
Invitae	RCV002054575	SCV002427047	likely benign	Hypertrophic cardiomyopathy	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002336115	SCV002640144	likely benign	Cardiovascular phenotype	2022-10-17	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.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723608	SCV001953044	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001723608	SCV001967805	likely benign	not provided		no assertion criteria provided	clinical testing