ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.2609G>A (p.Gly870Asp)

dbSNP: rs587784528
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
Genetic Services Laboratory, University of Chicago RCV000147884 SCV000195368 uncertain significance Angelman syndrome 2013-02-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000154106 SCV000203767 uncertain significance not provided 2014-01-15 criteria provided, single submitter clinical testing
Molecular Genetics Lab, CHRU Brest RCV000147884 SCV004697764 likely pathogenic Angelman syndrome 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.