ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.867GCT[3] (p.Leu291dup)

dbSNP: rs281865067
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000033927 SCV000039338 pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 1 2018-09-10 no assertion criteria provided literature only
GeneReviews RCV000033927 SCV000057846 not provided Autosomal dominant nocturnal frontal lobe epilepsy 1 no assertion provided literature only

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