ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.1618C>T (p.Pro540Ser) (rs148023511)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719668 SCV000850538 likely benign History of neurodevelopmental disorder 2017-11-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Does not segregate with disease in family study (genes with incomplete penetrance),Subpopulation frequency in support of benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153119 SCV000202579 uncertain significance not provided 2013-12-18 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764070 SCV000895024 uncertain significance Rubinstein-Taybi syndrome 1 2018-10-31 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.