ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.1179T>C (p.Asp393=) (rs143000400)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126215 SCV000169710 likely benign not specified 2018-02-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000126215 SCV000195336 likely benign not specified 2017-06-22 criteria provided, single submitter clinical testing
Invitae RCV000144338 SCV001653735 likely benign Angelman syndrome 2020-09-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000144338 SCV000188515 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.