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 | 2393 | 1143 | 43 | 38 | 3594 |
Condition and significance breakdown #
Total conditions: 25
| Condition | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|
| not specified | 2376 | 1126 | 4 | 0 | 3506 |
| POLQ-related disorder | 13 | 23 | 41 | 0 | 75 |
| not provided | 14 | 14 | 18 | 0 | 43 |
| Familial cancer of breast | 0 | 0 | 0 | 5 | 5 |
| Malignant tumor of esophagus | 0 | 0 | 0 | 5 | 5 |
| Malignant tumor of urinary bladder | 0 | 0 | 0 | 5 | 5 |
| Hepatocellular carcinoma | 0 | 0 | 0 | 4 | 4 |
| Cervical cancer | 0 | 0 | 0 | 3 | 3 |
| Lung cancer | 0 | 0 | 0 | 3 | 3 |
| Uterine carcinosarcoma | 0 | 0 | 0 | 3 | 3 |
| Acute myeloid leukemia | 0 | 0 | 0 | 2 | 2 |
| Clear cell carcinoma of kidney | 0 | 0 | 0 | 2 | 2 |
| Germ cell tumor of testis | 0 | 0 | 0 | 2 | 2 |
| Melanoma | 0 | 0 | 0 | 2 | 2 |
| Nonpapillary renal cell carcinoma | 0 | 0 | 0 | 2 | 2 |
| Ovarian serous cystadenocarcinoma | 0 | 0 | 0 | 2 | 2 |
| Sarcoma | 0 | 0 | 0 | 2 | 2 |
| Thymoma | 0 | 0 | 0 | 2 | 2 |
| Thyroid cancer, nonmedullary, 1 | 0 | 0 | 0 | 2 | 2 |
| Cholangiocarcinoma | 0 | 0 | 0 | 1 | 1 |
| Colon adenocarcinoma | 0 | 0 | 0 | 1 | 1 |
| Gastric cancer | 0 | 0 | 0 | 1 | 1 |
| Hereditary breast ovarian cancer syndrome | 1 | 0 | 0 | 0 | 1 |
| Squamous cell carcinoma of the head and neck | 0 | 0 | 0 | 1 | 1 |
| Teratoma | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|
| Ambry Genetics | 2376 | 1126 | 0 | 0 | 3502 |
| PreventionGenetics, part of Exact Sciences | 0 | 20 | 41 | 0 | 61 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 25 | 9 | 5 | 0 | 39 |
| Dr. Peter K. Rogan Lab, Western University | 0 | 0 | 0 | 38 | 38 |
| Breakthrough Genomics, Breakthrough Genomics | 1 | 3 | 15 | 0 | 19 |
| CeGaT Center for Human Genetics Tuebingen | 1 | 8 | 4 | 0 | 13 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 1 | 12 | 0 | 13 |
| GeneDx | 0 | 0 | 1 | 0 | 1 |
| Molecular ImmunoRheumatology UMRS_1109, Institut national de la santé et de la recherche médicale | 1 | 0 | 0 | 0 | 1 |
| Molecular Oncology Research Center, Barretos Cancer Hospital | 1 | 0 | 0 | 0 | 1 |
| Quest Diagnostics Nichols Institute San Juan Capistrano | 1 | 0 | 0 | 0 | 1 |