Submissions for variant NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=)

gnomAD frequency: 0.00321  dbSNP: rs144679294

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079570	SCV000111452	benign	not specified	2012-08-09	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000118241	SCV000152603	likely benign	not provided	2015-02-10	criteria provided, single submitter	clinical testing
Invitae	RCV001084539	SCV000286279	benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000268171	SCV000417793	likely benign	Epilepsy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000306839	SCV000417794	likely benign	Migraine, familial hemiplegic, 3	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics	RCV002313759	SCV000847484	likely benign	Inborn genetic diseases	2016-05-03	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Illumina Laboratory Services, Illumina	RCV001133245	SCV001292939	likely benign	Generalized epilepsy with febrile seizures plus, type 2	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000118241	SCV001936546	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000118241	SCV002496548	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	SCN1A: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences	RCV003925048	SCV004742042	benign	SCN1A-related condition	2019-09-09	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000118241	SCV001926967	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000118241	SCV001951315	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000118241	SCV002036366	likely benign	not provided		no assertion criteria provided	clinical testing