Submissions for variant NM_001130438.3(SPTAN1):c.6042T>G (p.Ser2014=)

gnomAD frequency: 0.00023  dbSNP: rs142830725

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147644	SCV000195093	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Invitae	RCV000230531	SCV000286170	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2023-12-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000147644	SCV000514767	benign	not specified	2015-05-20	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.
Genome-Nilou Lab	RCV001808408	SCV002056698	benign	Developmental and epileptic encephalopathy, 5	2021-07-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002354335	SCV002657786	benign	Inborn genetic diseases	2019-06-29	criteria provided, single submitter	clinical testing	This alteration is classified as 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.