ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.116G>A (p.Cys39Tyr)

dbSNP: rs2151858290
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
GeneDx RCV001767473 SCV001998315 uncertain significance not provided 2021-03-02 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 24009235)
Fulgent Genetics, Fulgent Genetics RCV005006023 SCV005640696 likely pathogenic Polycystic kidney disease, adult type 2024-04-04 criteria provided, single submitter clinical testing

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.