ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.283-43G>A

gnomAD frequency: 0.00061  dbSNP: rs267608448
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
RettBASE RCV000144131 SCV000189208 not provided not provided flagged submission not provided
RettBASE RCV000169976 SCV000222280 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.