Submissions for variant NM_001130438.3(SPTAN1):c.3078C>T (p.Pro1026=)

gnomAD frequency: 0.00009  dbSNP: rs779993051

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725966	SCV000340902	uncertain significance	not provided	2016-05-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000725966	SCV000514759	likely benign	not provided	2020-04-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001078976	SCV001002588	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2023-07-27	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001808737	SCV002056551	likely benign	Developmental and epileptic encephalopathy, 5	2021-07-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002319475	SCV002606867	likely benign	Inborn genetic diseases	2018-01-23	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.