ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2216= (p.Arg739=)

gnomAD frequency: 0.03313  dbSNP: rs40433
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000501511 SCV000592746 benign not specified 2016-06-24 criteria provided, single submitter clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research RCV001254237 SCV001430228 benign Autosomal dominant polycystic kidney disease 2019-01-01 criteria provided, single submitter research
Athena Diagnostics Inc RCV000501511 SCV001476597 benign not specified 2020-06-17 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.