ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser) (rs139928148)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000144351 SCV000195381 uncertain significance Angelman syndrome 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV001719911 SCV000616987 likely benign not provided 2019-11-07 criteria provided, single submitter clinical testing
Invitae RCV000144351 SCV000754752 likely benign Angelman syndrome 2020-11-18 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000144351 SCV000896438 uncertain significance Angelman syndrome 2018-10-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000144351 SCV000188528 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.