ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3610T>C (p.Trp1204Arg) (rs121917930)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091670 SCV001247848 pathogenic not provided 2017-12-01 criteria provided, single submitter clinical testing
OMIM RCV000013747 SCV000033994 pathogenic Generalized epilepsy with febrile seizures plus, type 2 2001-04-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059402 SCV000090926 not provided Generalized epilepsy with febrile seizures plus, type 1 no assertion provided not provided

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