Submissions for variant NM_000335.5(SCN5A):c.895T>A (p.Leu299Met)

gnomAD frequency: 0.00053  dbSNP: rs199473087

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000058859	SCV000171548	likely benign	not provided	2021-02-02	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 19841300, 20129283)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000058859	SCV000291840	likely benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000243540	SCV000319871	likely benign	Cardiovascular phenotype	2017-12-28	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.
Color Diagnostics, LLC DBA Color Health	RCV001842418	SCV001355407	likely benign	Cardiac arrhythmia	2018-11-16	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV001842418	SCV004818842	likely benign	Cardiac arrhythmia	2024-02-05	criteria provided, single submitter	clinical testing
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust	RCV000058859	SCV000090379	not provided	not provided		no assertion provided	literature only	This variant has been reported in the following publications (PMID:19841300;PMID:20129283).
Clinical Genetics, Academic Medical Center	RCV000058859	SCV001922817	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000058859	SCV001928955	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000417399	SCV001960162	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004542730	SCV004757594	likely benign	SCN5A-related disorder	2021-11-18	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).