ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.757G>A (p.Ala253Thr)

dbSNP: rs1057516093
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000678138 SCV003804662 likely pathogenic Developmental and epileptic encephalopathy, 7 2022-12-23 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PM5_STR, PM1, PS4_SUP, PM2_SUP, PP3
GeneReviews RCV000678138 SCV000484576 not provided Developmental and epileptic encephalopathy, 7 no assertion provided literature only Uncertain severity

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