ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5358C>T (p.Ser1786=)

gnomAD frequency: 0.00113  dbSNP: rs78543922
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
Eurofins Ntd Llc (ga) RCV000380855 SCV000344314 likely benign not specified 2016-10-25 criteria provided, single submitter clinical testing
Invitae RCV000551817 SCV000629925 benign Autosomal recessive polycystic kidney disease 2024-01-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000551817 SCV001459380 likely benign Autosomal recessive polycystic kidney disease 2020-04-17 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.