ClinVar Miner

Variants in gene CFD

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
7 6 143 115 14 284

Condition and significance breakdown #

Total conditions: 4
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 6 4 115 112 14 251
not specified 0 0 46 2 1 49
Recurrent Neisseria infections due to factor D deficiency 3 3 3 0 0 9
CFD-related disorder 0 0 1 4 1 6

Submitter and significance breakdown #

Total submitters: 16
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 5 3 109 111 14 242
Ambry Genetics 0 0 46 2 0 48
Mayo Clinic Laboratories, Mayo Clinic 0 0 9 0 0 9
Breakthrough Genomics, Breakthrough Genomics 0 0 2 0 6 8
PreventionGenetics, part of Exact Sciences 0 0 1 4 1 6
CeGaT Center for Human Genetics Tuebingen 0 0 0 1 2 3
OMIM 2 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 0 2
Blueprint Genetics 0 1 1 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 1 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 0 1

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.