ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu)

dbSNP: rs794729200
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986878 SCV001136026 likely pathogenic Severe myoclonic epilepsy in infancy 2019-05-28 criteria provided, single submitter clinical testing
Mendelics RCV000184019 SCV000236550 likely pathogenic Generalized epilepsy with febrile seizures plus, type 2 2013-02-18 no assertion criteria provided clinical testing

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