ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2376+1G>C

dbSNP: rs267608656
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
RettBASE RCV000144128 SCV000189205 not provided not provided flagged submission not provided
RettBASE RCV000170021 SCV000222328 pathogenic Developmental and epileptic encephalopathy, 2 2014-03-13 no assertion criteria provided curation Leads to exon 16 skipping, r.2277_2376del

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