ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8798-19A>C

gnomAD frequency: 0.73187  dbSNP: rs1326605
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
Eurofins Ntd Llc (ga) RCV000082588 SCV000114630 benign not specified 2015-10-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513752 SCV001721424 benign Autosomal recessive polycystic kidney disease 2025-02-03 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001530473 SCV001745311 benign Polycystic kidney disease 4 2021-06-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001530473 SCV002029986 benign Polycystic kidney disease 4 2021-09-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000082588 SCV002034994 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795153 SCV002036607 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001513752 SCV002077966 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.