Submissions for variant NM_000335.5(SCN5A):c.1281C>T (p.Thr427=)

gnomAD frequency: 0.00004  dbSNP: rs375989197

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127968	SCV000171556	benign	not specified	2013-10-30	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000867282	SCV001008489	likely benign	not provided	2024-01-11	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001842444	SCV001341853	likely benign	Cardiac arrhythmia	2018-11-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002381442	SCV002693424	likely benign	Cardiovascular phenotype	2021-08-18	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486660	SCV004239646	likely benign	Cardiomyopathy	2023-06-27	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV001842444	SCV004819190	likely benign	Cardiac arrhythmia	2023-11-30	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	RCV001087056	SCV001571581	likely benign	Brugada syndrome	2021-01-18	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000127968	SCV001923402	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000867282	SCV001963338	likely benign	not provided		no assertion criteria provided	clinical testing