Submissions for variant NM_000335.5(SCN5A):c.5946C>T (p.Ala1982=)

gnomAD frequency: 0.00001  dbSNP: rs397517957

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041635	SCV000065331	likely benign	not specified	2013-01-11	criteria provided, single submitter	clinical testing	Ala1983Ala in exon 28 of SCN5A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence.
GeneDx	RCV001711157	SCV000524610	likely benign	not provided	2020-02-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001711157	SCV000557131	likely benign	not provided	2024-11-08	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001841617	SCV001346474	likely benign	Cardiac arrhythmia	2018-10-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002354222	SCV002654842	likely benign	Cardiovascular phenotype	2020-04-21	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000041635	SCV004122660	likely benign	not specified	2023-10-09	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV001841617	SCV004823484	likely benign	Cardiac arrhythmia	2024-02-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001711157	SCV005258468	likely benign	not provided		criteria provided, single submitter	not provided
CeGaT Center for Human Genetics Tuebingen	RCV001711157	SCV005910395	likely benign	not provided	2025-03-01	criteria provided, single submitter	clinical testing	SCN5A: BP4
Clinical Genetics, Academic Medical Center	RCV000041635	SCV001919479	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001711157	SCV001956892	likely benign	not provided		no assertion criteria provided	clinical testing