Submissions for variant NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=)

gnomAD frequency: 0.62374  dbSNP: rs303815

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000118283	SCV000312087	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713156	SCV000843735	benign	not provided	2018-05-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312499	SCV000846158	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: 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001509964	SCV001716883	benign	Early infantile epileptic encephalopathy with suppression bursts	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000713156	SCV001870630	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807067	SCV002054581	benign	Myoclonus, familial, 2	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807064	SCV002054582	benign	Cognitive impairment with or without cerebellar ataxia	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807065	SCV002054583	benign	Developmental and epileptic encephalopathy, 13	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807066	SCV002054586	benign	Seizures, benign familial infantile, 5	2021-07-15	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000118283	SCV005087323	benign	not specified	2024-07-15	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 88% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 82. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV000713156	SCV005228880	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000118283	SCV000152655	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	RCV000118283	SCV001742214	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000118283	SCV001955220	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000118283	SCV001976039	benign	not specified		no assertion criteria provided	clinical testing