ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) (rs144979397)

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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507033 SCV000604787 uncertain significance not provided 2017-06-28 criteria provided, single submitter clinical testing
Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center RCV000162091 SCV000212090 not provided Polycystic kidney disease, adult type no assertion provided not provided

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.