ClinVar Miner

Submissions for variant NM_002666.5(PLIN1):c.902C>T (p.Thr301Met) (rs74407840)

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
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785103 SCV000923661 uncertain significance Familial partial lipodystrophy 4 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV000969373 SCV001116886 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV001174448 SCV001337587 likely benign Monogenic diabetes 2018-04-09 criteria provided, single submitter research ACMG criteria: PP3 (2 predictors), BP4 (7 predictors), REVEL 0.058, BS2 (15 cases and 13 controls in benign

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.