ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.99+1G>T (rs267608421)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659286 SCV000781089 likely pathogenic West syndrome 2016-11-01 criteria provided, single submitter clinical testing
RettBASE RCV000144145 SCV000189222 not provided not provided no assertion provided not provided
RettBASE RCV000170058 SCV000222367 pathogenic Early infantile epileptic encephalopathy 2 2014-03-13 no assertion criteria provided curation Bahi-Buisson et al 2008 showed skipping of exon 3

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