ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4266G>A (p.Arg1422=)

gnomAD frequency: 0.00029  dbSNP: rs146468152
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000735119 SCV000863319 uncertain significance not provided 2018-09-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079793 SCV001011816 likely benign Autosomal recessive polycystic kidney disease 2024-02-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001079793 SCV002078109 likely benign Autosomal recessive polycystic kidney disease 2021-05-15 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003908061 SCV004726924 likely benign PKHD1-related disorder 2021-09-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.