Submissions for variant NM_000335.5(SCN5A):c.1110G>A (p.Thr370=)

dbSNP: rs202025024

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003768687	SCV001016825	benign	not provided	2024-11-11	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001842552	SCV001344468	likely benign	Cardiac arrhythmia	2020-01-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003169190	SCV003864505	likely benign	Cardiovascular phenotype	2022-11-14	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	RCV001842552	SCV004815082	likely benign	Cardiac arrhythmia	2023-06-26	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV005405379	SCV006070442	likely benign	not specified	2025-04-09	criteria provided, single submitter	clinical testing	BP6;BP7