ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3971T>C (p.Phe1324Ser)

gnomAD frequency: 0.00121  dbSNP: rs113364886
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 RCV000248210 SCV000316285 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000248210 SCV000339422 likely benign not specified 2017-07-06 criteria provided, single submitter clinical testing
GeneDx RCV001722363 SCV000619084 likely benign not provided 2020-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000542228 SCV000636164 likely benign Nephronophthisis 2025-02-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294209 SCV002587750 uncertain significance Kidney disorder 2017-02-06 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001722363 SCV005410408 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.