Submissions for variant NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=)

gnomAD frequency: 0.00028  dbSNP: rs34654141

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147620	SCV000195069	uncertain significance	Developmental and epileptic encephalopathy, 5	2013-03-04	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000724445	SCV000227789	uncertain significance	not provided	2017-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000724445	SCV000243085	likely benign	not provided	2021-02-04	criteria provided, single submitter	clinical testing
Invitae	RCV001080124	SCV000758041	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2023-12-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724445	SCV001962575	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	SPTAN1: BP4, BP7
Genome-Nilou Lab	RCV000147620	SCV002056548	likely benign	Developmental and epileptic encephalopathy, 5	2021-07-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002433635	SCV002751309	benign	Inborn genetic diseases	2019-09-17	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.