ClinVar Miner

Submissions for variant NM_030787.4(CFHR5):c.846G>A (p.Pro282=)

gnomAD frequency: 0.00004  dbSNP: rs754917131
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002113019 SCV002397756 likely benign not provided 2021-12-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494235 SCV002800433 likely benign CFHR5 deficiency 2021-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002494235 SCV004177507 likely benign CFHR5 deficiency 2023-04-11 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.