ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter) (rs1555454604)

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
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000501909 SCV000592789 pathogenic Autosomal recessive polycystic kidney disease 2016-04-27 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000788767 SCV000928003 pathogenic not provided 2018-10-18 criteria provided, single submitter clinical testing
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001095562 SCV001251193 pathogenic Polycystic kidney disease, adult type 2020-02-05 criteria provided, single submitter research PVS1, PM2, PP4, PP5

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.