ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1569_1581del (p.Cys523fs)

dbSNP: rs1555854036
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000678059 SCV000041616 not provided Seizures, benign familial neonatal, 1 no assertion provided literature only BFNIS (benign familial neonatal-infantile seizures); 1/6 FS (febrile seizures) at 2 years.

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