ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8441-32G>C

gnomAD frequency: 0.33143  dbSNP: rs3920621
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248351 SCV000315844 benign not specified criteria provided, single submitter clinical testing
Pars Genome Lab RCV001530475 SCV001745313 benign Polycystic kidney disease 4 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001668600 SCV001887912 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001530475 SCV002029987 benign Polycystic kidney disease 4 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828158 SCV002077978 benign Autosomal recessive polycystic kidney disease 2018-04-12 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.