ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) (rs45503297)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153707 SCV000203265 likely benign not specified 2015-03-16 criteria provided, single submitter clinical testing
Counsyl RCV000169053 SCV000220213 likely benign Autosomal recessive polycystic kidney disease 2014-04-09 criteria provided, single submitter literature only
Invitae RCV000857874 SCV000262501 benign not provided 2019-03-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000153707 SCV000315853 likely benign not specified criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000169053 SCV000743913 likely benign Autosomal recessive polycystic kidney disease 2017-02-01 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000169053 SCV000745353 likely benign Autosomal recessive polycystic kidney disease 2015-08-18 criteria provided, single submitter 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.