ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter)

dbSNP: rs1559149128
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703313 SCV000832210 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2021-08-28 criteria provided, single submitter clinical testing
Mendelics RCV000986888 SCV001136038 pathogenic Severe myoclonic epilepsy in infancy 2019-05-28 criteria provided, single submitter clinical testing

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