ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.1389C>T (p.Tyr463=)

gnomAD frequency: 0.00001  dbSNP: rs587784431
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147606 SCV000195055 uncertain significance Developmental and epileptic encephalopathy, 5 2013-04-05 criteria provided, single submitter clinical testing
Invitae RCV000862828 SCV001003385 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-11-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000147606 SCV002056532 likely benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430711 SCV004160804 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing SPTAN1: BP4, BP7

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