Submissions for variant NM_001130438.3(SPTAN1):c.2888C>T (p.Thr963Met)

gnomAD frequency: 0.00006  dbSNP: rs375623472

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000189444	SCV000243084	likely benign	not specified	2017-12-06	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.
Invitae	RCV001058848	SCV001223444	benign	Early infantile epileptic encephalopathy with suppression bursts	2023-11-13	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV001288013	SCV001474800	likely benign	not provided	2020-01-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001808485	SCV002056650	benign	Developmental and epileptic encephalopathy, 5	2021-07-15	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001288013	SCV003822687	uncertain significance	not provided	2019-05-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003258690	SCV003948728	likely benign	Inborn genetic diseases	2023-05-31	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.