ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2688G>A (p.Met896Ile)

dbSNP: rs797044544
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000192060 SCV000056568 pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 5 2012-11-01 no assertion criteria provided literature only
GeneReviews RCV000192060 SCV000211891 not provided Autosomal dominant nocturnal frontal lobe epilepsy 5 no assertion provided literature only

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