ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.757G>T (p.Ala253Ser)

dbSNP: rs1057516093
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Total submissions: 1
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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 RCV001704839 SCV001428554 pathogenic Developmental and epileptic encephalopathy, 7 2020-09-29 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).

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