ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2019T>C (p.Pro673=)

gnomAD frequency: 0.01054  dbSNP: rs2230110
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145950 SCV000193089 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2013-03-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000145950 SCV001091622 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001711404 SCV001941174 benign not provided 2020-09-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975147 SCV004799027 benign EP300-related disorder 2019-05-15 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.