ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.586A>G (p.Ile196Val)

gnomAD frequency: 0.00009  dbSNP: rs148693910
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
Genetic Services Laboratory, University of Chicago RCV000145959 SCV000193101 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2014-05-12 criteria provided, single submitter clinical testing
Invitae RCV000145959 SCV003250118 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-11-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430709 SCV004147978 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing EP300: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003927427 SCV004743199 likely benign EP300-related condition 2021-09-20 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).

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.