ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.341C>T (p.Thr114Ile)

dbSNP: rs1057516077
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000678117 SCV000484552 not provided Developmental and epileptic encephalopathy, 7 no assertion provided literature only Likely EE (epileptic encephalopathy)

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