ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6323del (p.Gln2108fs)

dbSNP: rs2517834553
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
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV002287601 SCV002577696 pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2022-10-04 criteria provided, single submitter clinical testing PVS1;PM2_supporting;PM6

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.