Submissions for variant NM_006514.4(SCN10A):c.2884A>G (p.Ile962Val)

gnomAD frequency: 0.20797  dbSNP: rs57326399

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247107	SCV000311514	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000247107	SCV000517452	benign	not specified	2016-09-23	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.
Eurofins Ntd Llc (ga)	RCV000247107	SCV000700610	benign	not specified	2013-07-03	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000247107	SCV000740405	benign	not specified	2016-06-10	criteria provided, single submitter	clinical testing
Invitae	RCV001510997	SCV001718170	benign	Brugada syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807023	SCV002054503	benign	Episodic pain syndrome, familial, 2	2021-07-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002433590	SCV002749604	benign	Cardiovascular phenotype	2018-12-21	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000247107	SCV003928303	likely benign	not specified	2023-04-09	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000247107	SCV001917904	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000247107	SCV001951205	benign	not specified		no assertion criteria provided	clinical testing