ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=)

dbSNP: rs372394177
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) RCV000729602 SCV000857276 uncertain significance not provided 2018-04-06 criteria provided, single submitter clinical testing
Invitae RCV001084412 SCV001010057 likely benign Autosomal recessive polycystic kidney disease 2024-01-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002222618 SCV002500337 likely benign not specified 2022-03-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001084412 SCV001453260 uncertain significance Autosomal recessive polycystic kidney disease 2018-05-24 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.