ClinVar Miner

Submissions for variant NM_001002755.4(NFU1):c.548C>G (p.Pro183Arg)

dbSNP: rs1156891721
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
GeneDx RCV001574903 SCV001801791 uncertain significance not provided 2019-11-26 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
OMIM RCV004699426 SCV005201146 pathogenic SPASTIC PARAPLEGIA 93, AUTOSOMAL RECESSIVE 2024-09-09 no assertion criteria provided literature only

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.