ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1126del (p.Thr376fs)

dbSNP: rs1057516113
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000678167 SCV000484612 not provided Seizures, benign familial neonatal, 1 no assertion provided literature only BFNE (benign familial neonatal epilepsy)

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