Submissions for variant NM_000335.5(SCN5A):c.2313C>T (p.Leu771=)

gnomAD frequency: 0.00001  dbSNP: rs876657580

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000221641	SCV000270826	likely benign	not specified	2015-01-26	criteria provided, single submitter	clinical testing	p.Leu771Leu in exon 15 of SCN5A: 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.
Ambry Genetics	RCV000617808	SCV000737936	likely benign	Cardiovascular phenotype	2017-03-13	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003541173	SCV001629632	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001842976	SCV001735894	likely benign	Cardiac arrhythmia	2021-02-16	criteria provided, single submitter	clinical testing