ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.5988C>T (p.Ala1996=)

gnomAD frequency: 0.00612  dbSNP: rs181646656
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081063 SCV000112970 benign not specified 2013-03-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081063 SCV000192903 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000081063 SCV000310306 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000530305 SCV000629374 benign Rubinstein-Taybi syndrome 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311613 SCV000846603 benign Inborn genetic diseases 2016-04-27 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001610373 SCV001832979 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490708 SCV002795388 benign Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2021-07-27 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.