ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1419del (p.Gln475fs)

dbSNP: rs2147160726
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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 RCV001842259 SCV002102453 pathogenic Developmental and epileptic encephalopathy, 2 2022-02-01 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PVS1, PS2_SUP, PM2_SUP

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