Submissions for variant NM_001330260.2(SCN8A):c.402T>C (p.Phe134=)

gnomAD frequency: 0.00004  dbSNP: rs559668426

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725654	SCV000338384	uncertain significance	not provided	2016-01-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000725654	SCV000719280	likely benign	not provided	2019-11-13	criteria provided, single submitter	clinical testing
Invitae	RCV001397437	SCV001599184	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002374464	SCV002625622	likely benign	Inborn genetic diseases	2017-07-17	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.
CeGaT Center for Human Genetics Tuebingen	RCV000725654	SCV004700277	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	SCN8A: BP7
PreventionGenetics, part of Exact Sciences	RCV003967745	SCV004781554	likely benign	SCN8A-related condition	2019-08-29	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).