Submissions for variant NM_000335.5(SCN5A):c.1715C>T (p.Ala572Val)

dbSNP: rs36210423

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455370	SCV000540278	uncertain significance	not specified	2016-03-31	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported by 1 paper; ExAC: 0.2% (19/9772) African
Labcorp Genetics (formerly Invitae), Labcorp	RCV003541010	SCV001056114	likely benign	not provided	2024-04-16	criteria provided, single submitter	clinical testing
Mendelics	RCV000987223	SCV001136472	uncertain significance	Brugada syndrome 1	2019-05-28	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486631	SCV004239656	benign	Cardiomyopathy	2023-01-25	criteria provided, single submitter	clinical testing
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust	RCV000058448	SCV000089968	not provided	Congenital long QT syndrome		no assertion provided	literature only	This variant has been reported as associated with Long QT syndrome in the following publications (PMID:19716085). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.