ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3690dup (p.Ser1231Ter)

dbSNP: rs1057519534
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetics Laboratory - MEYER, AOU Meyer RCV000416955 SCV000494517 pathogenic Severe myoclonic epilepsy in infancy 2016-11-16 criteria provided, single submitter clinical testing

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