ClinVar Miner

Submissions for variant NM_000272.4(NPHP1):c.14G>T (p.Arg5Leu) (rs190983114)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117830 SCV000152099 benign not specified 2017-04-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117830 SCV000203131 benign not specified 2014-02-04 criteria provided, single submitter clinical testing
Invitae RCV000857743 SCV000260349 benign not provided 2019-02-28 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000117830 SCV000303399 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000205933 SCV000415935 likely benign Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307224 SCV000415936 likely benign Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345710 SCV000415937 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Mendelics RCV000986793 SCV001135924 benign Joubert syndrome 1 2019-05-28 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.