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 | not provided | total |
|---|---|---|---|---|---|---|
| 0 | 1 | 1881 | 1235 | 6 | 37 | 3151 |
Condition and significance breakdown #
| Condition | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|
| not specified | 0 | 1880 | 1233 | 0 | 0 | 3113 |
| not provided | 0 | 1 | 6 | 6 | 0 | 13 |
| Nonpapillary renal cell carcinoma | 0 | 0 | 0 | 0 | 6 | 6 |
| Melanoma | 0 | 0 | 0 | 0 | 5 | 5 |
| Ovarian serous cystadenocarcinoma | 0 | 0 | 0 | 0 | 5 | 5 |
| Cholangiocarcinoma | 0 | 0 | 0 | 0 | 4 | 4 |
| Gastric cancer | 0 | 0 | 0 | 0 | 4 | 4 |
| Thyroid cancer, nonmedullary, 1 | 0 | 0 | 0 | 0 | 4 | 4 |
| Uterine carcinosarcoma | 0 | 0 | 0 | 0 | 4 | 4 |
| Cervical cancer | 0 | 0 | 0 | 0 | 2 | 2 |
| Colorectal cancer | 0 | 0 | 0 | 0 | 2 | 2 |
| Familial cancer of breast | 0 | 0 | 0 | 0 | 2 | 2 |
| Hepatocellular carcinoma | 0 | 0 | 0 | 0 | 2 | 2 |
| Lymphoma | 0 | 0 | 0 | 0 | 2 | 2 |
| Malignant tumor of esophagus | 0 | 0 | 0 | 0 | 2 | 2 |
| Thymoma | 0 | 0 | 0 | 0 | 2 | 2 |
| Uveal melanoma | 0 | 0 | 0 | 0 | 2 | 2 |
| Colon adenocarcinoma | 0 | 0 | 0 | 0 | 1 | 1 |
| Inborn genetic diseases | 1 | 0 | 0 | 0 | 0 | 1 |
| Papillary renal cell carcinoma type 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| Uterine corpus endometrial carcinoma | 0 | 0 | 0 | 0 | 1 | 1 |
| WNK2-related condition | 0 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
| Submitter | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|
| Ambry Genetics | 1 | 1880 | 1233 | 0 | 0 | 3114 |
| Dr. Peter K. Rogan Lab, Western University | 0 | 0 | 0 | 0 | 37 | 37 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 1 | 2 | 5 | 0 | 8 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 0 | 2 | 6 | 0 | 8 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 4 | 0 | 0 | 4 |
| PreventionGenetics, part of Exact Sciences | 0 | 1 | 0 | 0 | 0 | 1 |