ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3500G>A (p.Arg1167His)

gnomAD frequency: 0.00033  dbSNP: rs111727307
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
PreventionGenetics, part of Exact Sciences RCV000247835 SCV000316273 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000247835 SCV000339423 likely benign not specified 2017-07-06 criteria provided, single submitter clinical testing
GeneDx RCV001722361 SCV000619083 likely benign not provided 2020-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000524884 SCV000636160 likely benign Nephronophthisis 2025-02-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294206 SCV002587755 uncertain significance Kidney disorder 2017-04-17 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001722361 SCV005410410 uncertain significance not provided 2024-04-09 criteria provided, single submitter clinical testing BS1

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.