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 |
|---|---|---|---|---|---|
| 24 | 70 | 175 | 5 | 0 | 269 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| CC2D2A | 24 | 70 | 175 | 5 | 269 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 16 | 62 | 171 | 5 | 254 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 9 | 2 | 3 | 0 | 14 |
| OMIM | 4 | 0 | 0 | 0 | 4 |
| First Genomix Gene Laboratory, Genetic Diagnostics Department | 0 | 3 | 0 | 0 | 3 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 1 | 1 | 0 | 0 | 2 |
| Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center | 0 | 2 | 0 | 0 | 2 |
| Center of Human Genetics, Hôpital Erasme | 0 | 1 | 0 | 0 | 1 |
| Dubai Health Genomic Medicine Center, Dubai Health | 0 | 1 | 0 | 0 | 1 |
| Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare | 1 | 0 | 0 | 0 | 1 |
| Institute of Immunology and Genetics Kaiserslautern | 0 | 0 | 1 | 0 | 1 |
| New York Genome Center | 0 | 0 | 1 | 0 | 1 |