ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2998-12G>A

gnomAD frequency: 0.00836  dbSNP: rs115849119
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145953 SCV000193094 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2013-03-04 criteria provided, single submitter clinical testing
GeneDx RCV001577098 SCV001804424 likely benign not provided 2021-01-04 criteria provided, single submitter clinical testing
Invitae RCV000145953 SCV002400825 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-01-30 criteria provided, single submitter clinical testing

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.