ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5772C>T (p.Phe1924=)

gnomAD frequency: 0.00006  dbSNP: rs141473212
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
Invitae RCV001274853 SCV001607819 likely benign Autosomal recessive polycystic kidney disease 2022-11-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892819 SCV004713923 likely benign PKHD1-related condition 2022-12-21 criteria provided, single submitter 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).
Natera, Inc. RCV001274853 SCV001459373 uncertain significance Autosomal recessive polycystic kidney disease 2017-05-10 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.