ClinVar Miner

Submissions for variant NC_000022.10:g.(41537227_41542742)_(41560135_41562602)dup

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000449571 SCV000537705 pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2016-12-13 criteria provided, single submitter clinical testing This the novo heterozygous tandem duplication in the EP300 gene was found in a patient with Rubinstein-Taybi syndrome.

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.