ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.707+1G>A (rs748365248)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725728 SCV000338920 pathogenic not provided 2016-02-04 criteria provided, single submitter clinical testing
Counsyl RCV000300283 SCV000485742 likely pathogenic Autosomal recessive polycystic kidney disease 2016-02-05 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.