ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.655C>T (p.Gln219Ter)

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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV005087549 SCV005725411 pathogenic Developmental and epileptic encephalopathy, 2 2025-02-13 criteria provided, single submitter clinical testing

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