ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.895G>A (p.Glu299Lys)

dbSNP: rs118192247
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000678049 SCV000041087 not provided Seizures, benign familial neonatal, 2 no assertion provided literature only Variant segregates with BFNE phenotype in 4/5 sibs of a 3-generation family; possibly contributes to the rolandic epilepsy in this family.

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