Submissions for variant NM_000335.5(SCN5A):c.2667C>T (p.Leu889=)

gnomAD frequency: 0.00002  dbSNP: rs587781162

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003539794	SCV000760346	likely benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001842450	SCV001352907	likely benign	Cardiac arrhythmia	2018-12-13	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002281951	SCV002571061	likely benign	not specified	2022-07-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002426690	SCV002744150	likely benign	Cardiovascular phenotype	2019-09-23	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.
All of Us Research Program, National Institutes of Health	RCV001842450	SCV004818644	likely benign	Cardiac arrhythmia	2023-09-18	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	RCV000638797	SCV002754562	likely benign	Brugada syndrome	2022-02-11	no assertion criteria provided	clinical testing