Submissions for variant NM_000335.5(SCN5A):c.873C>T (p.Asn291=)

gnomAD frequency: 0.00008  dbSNP: rs376515775

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001703794	SCV000523617	likely benign	not provided	2020-07-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001703794	SCV001009966	likely benign	not provided	2025-01-05	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001841316	SCV001340871	likely benign	Cardiac arrhythmia	2018-07-20	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000425127	SCV002571060	likely benign	not specified	2022-07-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002374660	SCV002685297	likely benign	Cardiovascular phenotype	2018-10-31	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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000425127	SCV006066459	likely benign	not specified	2025-04-09	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000425127	SCV001922712	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001703794	SCV001968317	likely benign	not provided		no assertion criteria provided	clinical testing