ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter) (rs267608663)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719674 SCV000850544 pathogenic History of neurodevelopmental disorder 2017-03-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Genetic Services Laboratory, University of Chicago RCV000145533 SCV000192622 pathogenic Early infantile epileptic encephalopathy 2 2013-02-08 criteria provided, single submitter clinical testing
RettBASE RCV000145533 SCV000188367 pathogenic Early infantile epileptic encephalopathy 2 2014-03-13 no assertion criteria provided curation Truncation causing loss of C-terminus

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