ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.762G>C (p.Glu254Asp)

dbSNP: rs2081189736
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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 RCV001253451 SCV001429161 likely pathogenic Developmental and epileptic encephalopathy, 7 2016-09-07 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).

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