ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.376A>G (p.Met126Val)

gnomAD frequency: 0.00011  dbSNP: rs200635644
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
GeneDx RCV001561302 SCV001783873 likely benign not provided 2020-10-29 criteria provided, single submitter clinical testing
Invitae RCV002515841 SCV002181467 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-11-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001561302 SCV004147976 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing EP300: BP4
PreventionGenetics, part of Exact Sciences RCV003925180 SCV004740123 likely benign EP300-related condition 2023-08-18 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 RCV000120711 SCV000084873 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.