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 | association | total |
|---|---|---|---|---|---|---|
| 1 | 0 | 0 | 0 | 1 | 3 | 5 |
Gene and significance breakdown #
Total genes and gene combinations: 5
| Gene or gene combination | pathogenic | benign | association | total |
|---|---|---|---|---|
| ATM | 0 | 1 | 0 | 1 |
| BRCA1 | 1 | 0 | 0 | 1 |
| CHEK2 | 0 | 0 | 1 | 1 |
| MRE11 | 0 | 0 | 1 | 1 |
| PALB2 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 3
| Submitter | pathogenic | benign | association | total |
|---|---|---|---|---|
| Molecular Oncology Laboratory, Centre Jean Perrin | 0 | 0 | 3 | 3 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 1 | 0 | 1 |
| Cancer Genomics Lab, PINUM Cancer Hospital | 1 | 0 | 0 | 1 |