ClinVar Miner

Submissions for variant NM_003159.2(CDKL5):c.2596C>T (p.Gln866Ter) (rs587783158)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144836 SCV000191075 pathogenic not provided 2012-04-12 criteria provided, single submitter clinical testing The Gln866Stop nonsense mutation in the CDKL5 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in EPILEPSY panel(s).
Genetic Services Laboratory, University of Chicago RCV000145534 SCV000192623 pathogenic Early infantile epileptic encephalopathy 2 2012-11-16 criteria provided, single submitter clinical testing

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