ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.923C>T (p.Pro308Leu)

gnomAD frequency: 0.00003  dbSNP: rs587778261
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
Invitae RCV002515851 SCV003241673 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-02-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952595 SCV004782041 likely benign EP300-related condition 2023-08-24 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ITMI RCV000120731 SCV000084894 not provided not specified 2013-09-19 no assertion provided reference population

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.