ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.3143-4dup

dbSNP: rs757931697
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
Eurofins Ntd Llc (ga) RCV000175158 SCV000226594 benign not specified 2014-08-08 criteria provided, single submitter clinical testing
GeneDx RCV001560409 SCV001782819 likely benign not provided 2020-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002516661 SCV002475288 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2025-01-17 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.