ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2152+48C>T (rs267608652)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
RettBASE RCV000144125 SCV000189202 not provided not provided no assertion provided not provided
RettBASE RCV000169975 SCV000222279 likely benign not specified 2014-03-13 no assertion criteria provided curation Unlikely to be pathogenic, not predicted to change splicing; however, there is no empirical evidence for this

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