ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.851A>G (p.Tyr284Cys)

dbSNP: rs28939683
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000007806 SCV000028007 pathogenic Seizures, benign familial neonatal, 1 1998-01-01 no assertion criteria provided literature only
GeneReviews RCV000007806 SCV000041661 not provided Seizures, benign familial neonatal, 1 no assertion provided literature only BFNE (benign familial neonatal epilepsy)
Channelopathy-Associated Epilepsy Research Center RCV003315290 SCV004015095 not provided Complex neurodevelopmental disorder no assertion provided literature only

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