ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1471A>T (p.Met491Leu)

gnomAD frequency: 0.00001  dbSNP: rs756807243
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592553 SCV000707691 uncertain significance not provided 2017-04-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483641 SCV002788449 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2021-11-08 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.