ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.740C>G (p.Ser247Trp) (rs74315392)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000030664 SCV000028017 pathogenic Early infantile epileptic encephalopathy 7 2004-07-13 no assertion criteria provided literature only
GeneReviews RCV000678092 SCV000041655 pathogenic Benign familial neonatal seizures 2 2016-03-31 no assertion criteria provided literature only .Identified in a boy with EE (EE (epileptic encephalopathy); mother with BNE (benign neonatal epilepsy) (possible mosaicism; uncertain severity)

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