ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter) (rs62653623)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711154 SCV000841484 pathogenic not provided 2018-05-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000145523 SCV000192611 pathogenic Early infantile epileptic encephalopathy 2 2013-02-08 criteria provided, single submitter clinical testing
RettBASE RCV000145523 SCV000188339 pathogenic Early infantile epileptic encephalopathy 2 2014-03-13 no assertion criteria provided curation In vitro study (Ricciardi et al 2009) shows abnormal nuclear speckles
RettBASE RCV000170010 SCV000222317 pathogenic Atypical Rett syndrome 2014-03-13 no assertion criteria provided curation In vitro study (Ricciardi et al 2009) shows abnormal nuclear speckles

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