ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.63-19_63-17del

dbSNP: rs587782921
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000144347 SCV002352258 likely benign Angelman syndrome 2024-01-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000144347 SCV000188524 uncertain significance Angelman syndrome 2014-02-14 no assertion criteria provided clinical testing possible diagnosis of Angelman 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.