ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.3786C>A (p.Ile1262=) (rs129974)

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
Ambry Genetics RCV000715520 SCV000846349 benign History of neurodevelopmental disorder 2016-03-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Genetic Services Laboratory, University of Chicago RCV000145742 SCV000192868 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000528435 SCV000629368 benign Rubinstein-Taybi syndrome 1 2016-08-24 criteria provided, single submitter clinical testing
PreventionGenetics RCV000145742 SCV000310302 benign not specified 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.