ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6289C>G (p.Pro2097Ala)

gnomAD frequency: 0.00015  dbSNP: rs200189212
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002515846 SCV001633248 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-11-05 criteria provided, single submitter clinical testing
GeneDx RCV001572184 SCV001796782 likely benign not provided 2021-01-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001572184 SCV004153138 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing EP300: BP4, BS2
ITMI RCV000120721 SCV000084884 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV003935151 SCV004750227 likely benign EP300-related disorder 2021-10-25 no assertion criteria provided 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).

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.