ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.2007G>A (p.Leu669=)

gnomAD frequency: 0.00018  dbSNP: rs151120697
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001371820 SCV001568401 likely benign Nephronophthisis 2023-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488174 SCV002782855 uncertain significance Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 2021-12-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734154 SCV005351357 likely benign NPHP1-related disorder 2024-09-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.