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 |
|---|---|---|---|---|---|
| 73 | 11 | 59 | 42 | 53 | 238 |
Gene and significance breakdown #
Total genes and gene combinations: 20
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| BRCA2 | 7 | 0 | 10 | 15 | 14 | 46 |
| BRCA1 | 13 | 1 | 7 | 12 | 3 | 36 |
| APC | 9 | 0 | 7 | 2 | 2 | 20 |
| MSH2 | 2 | 2 | 5 | 1 | 7 | 17 |
| PMS2 | 1 | 2 | 5 | 2 | 7 | 17 |
| MLH1 | 3 | 0 | 3 | 3 | 7 | 16 |
| TP53 | 8 | 1 | 5 | 0 | 1 | 15 |
| MUTYH | 8 | 1 | 3 | 1 | 1 | 14 |
| MSH6 | 4 | 0 | 2 | 2 | 2 | 10 |
| PALB2 | 2 | 0 | 0 | 0 | 7 | 9 |
| CDH1 | 4 | 0 | 2 | 1 | 1 | 8 |
| BLM | 3 | 0 | 1 | 2 | 0 | 6 |
| PTEN | 4 | 1 | 1 | 0 | 0 | 6 |
| STK11 | 2 | 0 | 3 | 0 | 0 | 5 |
| BRCA1, LOC126862571 | 1 | 1 | 0 | 1 | 1 | 4 |
| CHEK2 | 1 | 1 | 2 | 0 | 0 | 4 |
| BRIP1 | 0 | 0 | 2 | 0 | 0 | 2 |
| BMPR1A | 0 | 1 | 0 | 0 | 0 | 1 |
| LOC130062899, STK11 | 0 | 0 | 1 | 0 | 0 | 1 |
| SMAD4 | 1 | 0 | 0 | 0 | 0 | 1 |
Condition and significance breakdown #
Total conditions: 13
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Lynch syndrome 1 | 10 | 4 | 15 | 8 | 23 | 60 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 7 | 0 | 10 | 15 | 14 | 46 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 14 | 2 | 7 | 13 | 4 | 40 |
| Familial adenomatous polyposis 1 | 9 | 0 | 7 | 2 | 2 | 20 |
| Li-Fraumeni syndrome 1 | 8 | 1 | 5 | 0 | 1 | 15 |
| Carcinoma of colon | 8 | 1 | 3 | 1 | 1 | 14 |
| Familial cancer of breast | 3 | 1 | 2 | 0 | 7 | 13 |
| Hereditary diffuse gastric adenocarcinoma | 4 | 0 | 2 | 1 | 1 | 8 |
| Bloom syndrome | 3 | 0 | 1 | 2 | 0 | 6 |
| Cowden syndrome 1 | 4 | 1 | 1 | 0 | 0 | 6 |
| Peutz-Jeghers syndrome | 2 | 0 | 4 | 0 | 0 | 6 |
| Fanconi anemia complementation group J | 0 | 0 | 2 | 0 | 0 | 2 |
| Generalized juvenile polyposis/juvenile polyposis coli | 1 | 1 | 0 | 0 | 0 | 2 |