ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2380-15T>C

gnomAD frequency: 0.04125  dbSNP: rs17002316
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145951 SCV000193091 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000145951 SCV000307883 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001668290 SCV001887530 benign not provided 2018-07-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002515960 SCV002401541 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001668290 SCV005278892 benign not provided criteria provided, single submitter not provided

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.