ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.622C>T (p.Gln208Ter) (rs587783405)

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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 RCV000145545 SCV000192638 pathogenic Early infantile epileptic encephalopathy 2 2014-05-06 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626839 SCV000747542 pathogenic Global developmental delay; Seizures; Stereotypy; Delayed speech and language development; Generalized hypotonia; Bruxism; Stereotypical hand wringing; Stereotypical body rocking 2017-01-01 criteria provided, single submitter clinical testing

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