Submissions for variant NM_001330260.2(SCN8A):c.1846GGCTACAGC[1] (p.616GYS[1])

dbSNP: rs758276968

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000474401	SCV000544806	benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002318522	SCV000851510	likely benign	Inborn genetic diseases	2018-06-13	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Eurofins Ntd Llc (ga)	RCV000731064	SCV000858835	uncertain significance	not provided	2018-01-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000731064	SCV001148738	uncertain significance	not provided	2018-12-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000731064	SCV001940642	benign	not provided	2020-06-17	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000731064	SCV001800454	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000731064	SCV001970831	uncertain significance	not provided		no assertion criteria provided	clinical testing