ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.6571G>A (p.Gly2191Ser) (rs139688311)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081070 SCV000112977 benign not specified 2013-03-18 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514578 SCV000610297 benign not provided 2017-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716559 SCV000847400 likely benign History of neurodevelopmental disorder 2017-09-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification
ITMI RCV000081070 SCV000084768 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.