ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile)

dbSNP: rs121918629
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001296128 SCV001485084 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2021-08-13 criteria provided, single submitter clinical testing
OMIM RCV000013754 SCV000034001 pathogenic Severe myoclonic epilepsy in infancy 2003-03-01 no assertion criteria provided literature only
OMIM RCV000013755 SCV000034002 pathogenic Generalized epilepsy with febrile seizures plus, type 2 2003-03-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000013754 SCV000091062 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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