ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7060C>T (p.Gln2354Ter)

dbSNP: rs2092400157
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 RCV001289137 SCV001476752 pathogenic not provided 2019-11-12 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data.
Fulgent Genetics, Fulgent Genetics RCV002480938 SCV002797324 pathogenic Polycystic kidney disease, adult type 2022-04-09 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.