ClinVar Miner

Submissions for variant SCN1A, 1-BP DEL, 2528G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000013761 SCV000034008 pathogenic Generalized epilepsy with febrile seizures plus, type 2 2006-02-28 no assertion criteria provided literature only
OMIM RCV000032606 SCV000056360 pathogenic Severe myoclonic epilepsy in infancy 2006-02-28 no assertion criteria provided literature only

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