ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1632-1G>T (rs118192233)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000678108 SCV001141271 benign Benign familial neonatal seizures 1 2019-05-28 criteria provided, single submitter clinical testing
GeneReviews RCV000678108 SCV000056017 pathogenic Benign familial neonatal seizures 1 2016-03-31 no assertion criteria provided literature only BFNE (benign familial neonatal epilepsy)

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