ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4043T>C (p.Met1348Thr)

dbSNP: rs1559128483
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000767349 SCV000897919 likely pathogenic Generalized epilepsy with febrile seizures plus, type 2 2018-12-18 criteria provided, single submitter clinical testing

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