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 |
|---|---|---|---|---|---|
| 2 | 2 | 52 | 21 | 6 | 79 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| C2 | 2 | 2 | 45 | 2 | 2 | 51 |
| C2, CFB | 0 | 0 | 7 | 18 | 4 | 27 |
| CFB | 0 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 47 | 20 | 3 | 70 |
| Mendelics | 1 | 0 | 0 | 1 | 3 | 5 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 1 | 1 | 1 | 0 | 0 | 3 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 1 | 0 | 1 | 0 | 0 | 2 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 1 | 0 | 1 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare | 1 | 0 | 0 | 0 | 0 | 1 |
| Department of Human Genetics, Hannover Medical School | 0 | 0 | 1 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 1 | 0 | 0 | 0 | 1 |
| Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center | 1 | 0 | 0 | 0 | 0 | 1 |
| Reproductive Health Research and Development, BGI Genomics | 1 | 0 | 0 | 0 | 0 | 1 |
| UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini | 0 | 0 | 1 | 0 | 0 | 1 |