ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12267del (p.Leu4090fs)

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
Genesis Genoma Lab, Genesis Genoma Lab RCV003237324 SCV003935200 likely pathogenic Polycystic kidney disease, adult type 2023-06-26 criteria provided, single submitter clinical testing This variant was detected as in a 18 year old male with a clinical diagnosis of polycystic kidney disease. The asymptomatic parents did not carry the detected variant (de novo). Variant c.12267del p.Leu4090SerfsTer108) of PKD1 gene is not reported in gnomAD database. Other frameshift variants in downstream genetic positions of gene PKD1 have been reported in ClinVar database with pathogenic clinical significance.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV003237324 SCV005184194 pathogenic Polycystic kidney disease, adult type 2024-07-19 criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PP4

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.