ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter) (rs267608659)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145530 SCV000192619 pathogenic Early infantile epileptic encephalopathy 2 2013-02-08 criteria provided, single submitter clinical testing
NeuroMeGen,Hospital Clinico Santiago de Compostela RCV000145530 SCV000693780 likely pathogenic Early infantile epileptic encephalopathy 2 2018-01-01 criteria provided, single submitter clinical testing
RettBASE RCV000145530 SCV000188362 pathogenic Early infantile epileptic encephalopathy 2 2014-03-13 no assertion criteria provided curation Truncation causing loss of nuclear export signal

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