ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2517C>A (rs1362306576)

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
Gharavi Laboratory,Columbia University RCV000722181 SCV000853312 uncertain significance not provided 2018-09-16 criteria provided, single submitter research
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001171500 SCV001305469 pathogenic Factor H deficiency 2020-05-27 criteria provided, single submitter research
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001171329 SCV001328276 likely pathogenic Chronic kidney disease 2020-05-28 criteria provided, single submitter research PVS1, PM2

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.