ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro) (rs1046088)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079681 SCV000111564 benign not specified 2013-03-07 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079681 SCV000307893 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000541192 SCV000650102 benign Rubinstein-Taybi syndrome 2; Colorectal cancer 2019-12-31 criteria provided, single submitter clinical testing
ITMI RCV000079681 SCV000084881 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.