ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.747dup (p.Pro250fs)

dbSNP: rs875989880
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000211460 SCV000268518 pathogenic Developmental and epileptic encephalopathy, 2 2016-04-06 criteria provided, single submitter clinical testing This de novo and pathogenic mutation in the CDKL5 gene was identified in a patient with epileptic encephalopathy and is the genetic cause of the observed pathology.

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