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 |
|---|---|---|---|---|---|
| 294 | 26 | 152 | 106 | 17209 | 17787 |
Gene and significance breakdown #
Total genes and gene combinations: 5204
Condition and significance breakdown #
Total conditions: 4
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| not provided | 293 | 25 | 151 | 106 | 17209 | 17784 |
| BMPR1A Skeletal Dysplasia Syndrome | 0 | 1 | 0 | 0 | 0 | 1 |
| Familial hemophagocytic lymphohistiocytosis 3 | 1 | 0 | 0 | 0 | 0 | 1 |
| Ogden syndrome | 0 | 0 | 1 | 0 | 0 | 1 |