ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10161C>T (p.His3387=)

gnomAD frequency: 0.00015  dbSNP: rs143350197
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 RCV001663773 SCV001879406 likely benign not specified 2020-12-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506717 SCV002802706 likely benign Polycystic kidney disease, adult type 2021-08-16 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.