Submissions for variant NM_001330260.2(SCN8A):c.576C>T (p.Asp192=)

gnomAD frequency: 0.81114  dbSNP: rs4761829

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000118289	SCV000231115	benign	not specified	2014-10-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000118289	SCV000312089	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000713160	SCV000843739	benign	not provided	2018-05-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312502	SCV000846150	benign	Inborn genetic diseases	2015-12-31	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Invitae	RCV001520527	SCV001729646	benign	Early infantile epileptic encephalopathy with suppression bursts	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000713160	SCV001848261	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807075	SCV002054559	benign	Myoclonus, familial, 2	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807072	SCV002054560	benign	Cognitive impairment with or without cerebellar ataxia	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807073	SCV002054561	benign	Developmental and epileptic encephalopathy, 13	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807074	SCV002054563	benign	Seizures, benign familial infantile, 5	2021-07-15	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000118289	SCV000152661	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000118289	SCV001742549	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000118289	SCV001956774	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000118289	SCV001973505	benign	not specified		no assertion criteria provided	clinical testing