ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2572del (p.Arg858fs) (rs267608662)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145532 SCV000192621 pathogenic Early infantile epileptic encephalopathy 2 2013-02-08 criteria provided, single submitter clinical testing
RettBASE RCV000133355 SCV000188366 pathogenic not provided 2011-02-15 no assertion criteria provided research

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