ClinVar Miner

Submissions for variant NM_030787.3(CFHR5):c.678del (p.Glu226fs) (rs368209619)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000211432 SCV000268509 pathogenic CFHR5 deficiency 2016-03-17 criteria provided, single submitter clinical testing Loss of function mutations in the CHFR5 gene are known to be a cause of autosomic dominant nephropathy.

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.