Submissions for variant NM_001165963.4(SCN1A):c.2176+17A>G

gnomAD frequency: 0.03846  dbSNP: rs59251406

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079564	SCV000111446	benign	not specified	2015-04-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000079564	SCV000171461	benign	not specified	2012-06-12	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.
PreventionGenetics, part of Exact Sciences	RCV000079564	SCV000307029	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV002055122	SCV002395068	benign	Early infantile epileptic encephalopathy with suppression bursts	2024-02-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000079564	SCV001931769	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000079564	SCV001958019	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001795089	SCV002036063	likely benign	not provided		no assertion criteria provided	clinical testing