ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2934G>A (p.Gln978=)

dbSNP: rs536715802
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
Eurofins Ntd Llc (ga) RCV000598255 SCV000706302 likely benign not specified 2017-02-07 criteria provided, single submitter clinical testing
Invitae RCV000868210 SCV001009513 benign Autosomal recessive polycystic kidney disease 2024-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483622 SCV002800522 likely benign Polycystic kidney disease 4 2021-12-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945411 SCV004761532 likely benign PKHD1-related disorder 2021-07-12 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. RCV000868210 SCV002081010 likely benign Autosomal recessive polycystic kidney disease 2017-10-16 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.