ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1118+1G>A

dbSNP: rs397507449
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000678106 SCV001141273 benign Seizures, benign familial neonatal, 1 2019-05-28 criteria provided, single submitter clinical testing
GeneReviews RCV000678106 SCV000056015 not provided Seizures, benign familial neonatal, 1 no assertion provided literature only BNE (benign neonatal epilepsy)

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