ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.3348C>T (p.Ile1116=)

gnomAD frequency: 0.00002  dbSNP: rs751938743
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
Eurofins Ntd Llc (ga) RCV000593998 SCV000704233 uncertain significance not provided 2016-12-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001483791 SCV001688196 likely benign Nephronophthisis 2020-10-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543346 SCV004763849 likely benign NPHP4-related disorder 2022-05-10 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.