ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2376+5G>A

dbSNP: rs267608657
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
RettBASE RCV000144129 SCV000189206 not provided not provided flagged submission not provided
RettBASE RCV000169983 SCV000222288 likely pathogenic Atypical Rett syndrome 2014-03-13 no assertion criteria provided curation Predicted to abolish existing splice site, not tested in RNA

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