Submissions for variant NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=)

dbSNP: rs60637

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000118287	SCV000312088	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000118287	SCV000338929	benign	not specified	2016-01-12	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000713157	SCV000843736	benign	not provided	2018-05-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312501	SCV000846187	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	RCV001509965	SCV001716884	benign	Early infantile epileptic encephalopathy with suppression bursts	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000713157	SCV001891175	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807071	SCV002054591	benign	Myoclonus, familial, 2	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807068	SCV002054592	benign	Cognitive impairment with or without cerebellar ataxia	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807069	SCV002054593	benign	Developmental and epileptic encephalopathy, 13	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807070	SCV002054594	benign	Seizures, benign familial infantile, 5	2021-07-15	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000118287	SCV000152659	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	RCV000118287	SCV001742033	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000118287	SCV001927686	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000118287	SCV001956639	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000118287	SCV001971885	benign	not specified		no assertion criteria provided	clinical testing