ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.387+1G>T

dbSNP: rs118192195
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000678079 SCV000041640 not provided Seizures, benign familial neonatal, 1 no assertion provided literature only BFNE (benign familial neonatal epilepsy)

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