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 | 0 | 1347 | 751 | 49 | 29 | 2157 |
Condition and significance breakdown #
Total conditions: 17
| Condition | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|
| not specified | 1347 | 743 | 1 | 0 | 2091 |
| ALPK2-related disorder | 0 | 16 | 48 | 0 | 64 |
| Ovarian serous cystadenocarcinoma | 0 | 0 | 0 | 12 | 12 |
| not provided | 1 | 2 | 3 | 0 | 6 |
| Nonpapillary renal cell carcinoma | 0 | 0 | 0 | 4 | 4 |
| Lung cancer | 0 | 0 | 0 | 3 | 3 |
| Malignant lymphoma, large B-cell, diffuse | 0 | 0 | 0 | 3 | 3 |
| Cholangiocarcinoma | 0 | 0 | 0 | 2 | 2 |
| Gastric cancer | 0 | 0 | 0 | 2 | 2 |
| Hepatocellular carcinoma | 0 | 0 | 0 | 2 | 2 |
| Melanoma | 0 | 0 | 0 | 2 | 2 |
| Thymoma | 0 | 0 | 0 | 2 | 2 |
| Thyroid cancer, nonmedullary, 1 | 0 | 0 | 0 | 2 | 2 |
| Uterine corpus endometrial carcinoma | 0 | 0 | 0 | 2 | 2 |
| Clear cell carcinoma of kidney | 0 | 0 | 0 | 1 | 1 |
| Malignant tumor of esophagus | 0 | 0 | 0 | 1 | 1 |
| Uterine carcinosarcoma | 0 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 6
| Submitter | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|
| Ambry Genetics | 1347 | 743 | 1 | 0 | 2091 |
| PreventionGenetics, part of Exact Sciences | 0 | 16 | 48 | 0 | 64 |
| Dr. Peter K. Rogan Lab, Western University | 0 | 0 | 0 | 29 | 29 |
| Breakthrough Genomics, Breakthrough Genomics | 1 | 1 | 2 | 0 | 4 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 0 | 3 | 0 | 3 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 1 | 0 | 0 | 1 |