ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9521A>C (p.His3174Pro)

dbSNP: rs769045618
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
Athena Diagnostics Inc RCV000992617 SCV001145024 uncertain significance not provided 2020-01-28 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV001374451 SCV001571325 likely pathogenic Polycystic kidney disease, adult type 2021-03-12 criteria provided, single submitter clinical testing Family studies suggest that this variant segregated with autosomal dominant polycystic kidney disease (ADPKD) .

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.