ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.516A>G (p.Thr172=)

gnomAD frequency: 0.00001  dbSNP: rs1271302052
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 RCV001487974 SCV001692476 likely benign Werner syndrome 2023-12-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434274 SCV004164584 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing WRN: BP4, BP7

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.