ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.130G>A (p.Gly44Ser)

dbSNP: rs199469669
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
Rajkovic Lab, University of Pittsburgh RCV000077836 SCV000109679 associated with leiomyomas Uterine leiomyoma no assertion provided not provided Converted during submission to not provided.
Donald Williams Parsons Laboratory, Baylor College of Medicine RCV000505562 SCV000599938 other Angiosarcoma 2016-05-01 no assertion criteria provided 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.