ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5827G>A (p.Val1943Ile)

gnomAD frequency: 0.04174  dbSNP: rs137978188
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243544 SCV000305757 likely benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001569 SCV001158957 benign Polycystic kidney disease, adult type 2020-06-02 criteria provided, single submitter clinical testing
GeneDx RCV001576880 SCV001804152 likely benign not provided 2021-05-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001576880 SCV005218996 likely benign not provided criteria provided, single submitter not provided
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001292036 SCV001480653 benign Polycystic kidney disease no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000243544 SCV002035504 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000243544 SCV002037345 benign not specified no assertion criteria provided 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.