ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1930del (p.Tyr644fs)

dbSNP: rs118192241
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000678065 SCV000028010 pathogenic Seizures, benign familial neonatal, 1 1999-03-01 no assertion criteria provided literature only
GeneReviews RCV000678065 SCV000041624 not provided Seizures, benign familial neonatal, 1 no assertion provided literature only BFNE (benign familial neonatal epilepsy). In all patients, seizures persisted until 12-18 months.

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