ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3686T>C (p.Leu1229Pro)

dbSNP: rs1692861040
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253246 SCV001428866 uncertain significance Generalized epilepsy with febrile seizures plus, type 2 2018-07-25 criteria provided, single submitter clinical testing

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