ClinVar Miner

Submissions for variant NM_024529.4(CDC73):c.679_680insAG (p.Arg227fs) (rs80356649)

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
OMIM RCV000003427 SCV000023585 pathogenic Hyperparathyroidism 2 2004-01-01 no assertion criteria provided literature only
OMIM RCV000003428 SCV000023586 pathogenic Parathyroid carcinoma 2004-01-01 no assertion criteria provided literature only
GeneReviews RCV000003428 SCV000041477 pathologic Parathyroid carcinoma 2012-05-24 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000664206 SCV000787828 pathogenic Hyperparathyroidism 1 2004-01-01 no assertion criteria provided literature only

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.