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 |
|---|---|---|---|---|---|
| 0 | 0 | 3 | 1 | 0 | 4 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | uncertain significance | likely benign | total |
|---|---|---|---|
| JMJD8, STUB1 | 2 | 1 | 3 |
| STUB1 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 3
| Submitter | uncertain significance | likely benign | total |
|---|---|---|---|
| Department of Pathology and Laboratory Medicine, Sinai Health System | 2 | 0 | 2 |
| Fulgent Genetics, Fulgent Genetics | 0 | 1 | 1 |
| University of Washington Department of Laboratory Medicine, University of Washington | 1 | 0 | 1 |