ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5936_5949del (p.Cys1979fs)

dbSNP: rs2544807269
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genesis Genoma Lab, Genesis Genoma Lab RCV003237325 SCV003935201 likely pathogenic Polycystic kidney disease, adult type 2023-06-26 criteria provided, single submitter clinical testing This variant was detected in an 18 year old male with clinical diagnosis of polycystic kidney disease and positive family history. It is not reported in gnomAD database. Downstream frameshift mutations in PKD1 with pathogenic clinical significance was been reported in ClinVar database.

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.