ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3913dup (p.Leu1305fs)

dbSNP: rs1701138696
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253628 SCV001429455 pathogenic Seizures, benign familial infantile, 3 2018-08-24 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).

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