ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.464-40_464-37del

dbSNP: rs267608481
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
RettBASE RCV000144138 SCV000189215 not provided not provided flagged submission not provided
RettBASE RCV000169979 SCV000222284 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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