ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile)

gnomAD frequency: 0.00002  dbSNP: rs746532292
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762577 SCV000892910 uncertain significance not provided 2018-09-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001253699 SCV001429546 uncertain significance Developmental and epileptic encephalopathy, 5 2017-05-15 criteria provided, single submitter clinical testing
Invitae RCV001391698 SCV001593322 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-05-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001253699 SCV002056618 likely benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing

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