ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8045C>A (p.Ser2682Ter)

dbSNP: rs151308544
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
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001095639 SCV001251280 pathogenic Polycystic kidney disease, adult type 2020-02-05 criteria provided, single submitter research PVS1, PM2, PP4, PP5
Athena Diagnostics RCV001664681 SCV001879455 pathogenic not provided 2020-12-31 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene.

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.