ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.836T>A (p.Ile279Asn)

dbSNP: rs104894063
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 RCV000019056 SCV000039343 pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 4 2006-08-01 no assertion criteria provided literature only
GeneReviews RCV000019056 SCV000055720 not provided Autosomal dominant nocturnal frontal lobe epilepsy 4 no assertion provided literature only

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