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 | 1556 | 795 | 32 | 22 | 2351 |
Condition and significance breakdown #
| Condition | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|
| not specified | 1385 | 716 | 10 | 0 | 2101 |
| not provided | 374 | 175 | 31 | 0 | 575 |
| Thyroid cancer, nonmedullary, 1 | 0 | 0 | 0 | 6 | 6 |
| Gastric cancer | 0 | 0 | 0 | 3 | 3 |
| Ovarian serous cystadenocarcinoma | 0 | 0 | 0 | 3 | 3 |
| Acute myeloid leukemia | 0 | 0 | 0 | 2 | 2 |
| Familial cancer of breast | 0 | 0 | 0 | 2 | 2 |
| Melanoma | 0 | 0 | 0 | 2 | 2 |
| NPAT-related disorder | 0 | 2 | 0 | 0 | 2 |
| Uterine corpus endometrial carcinoma | 0 | 0 | 0 | 2 | 2 |
| Familial colorectal cancer type X | 1 | 0 | 0 | 0 | 1 |
| Malignant tumor of urinary bladder | 0 | 0 | 0 | 1 | 1 |
| Nonpapillary renal cell carcinoma | 0 | 0 | 0 | 1 | 1 |
| Pancreatic adenocarcinoma | 0 | 0 | 0 | 1 | 1 |
| Thymoma | 0 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
| Submitter | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|
| Ambry Genetics | 1367 | 712 | 0 | 0 | 2079 |
| Labcorp Genetics (formerly Invitae), Labcorp | 372 | 171 | 30 | 0 | 573 |
| Genetic Services Laboratory, University of Chicago | 29 | 9 | 10 | 0 | 48 |
| Dr. Peter K. Rogan Lab, Western University | 0 | 0 | 0 | 22 | 22 |
| Breakthrough Genomics, Breakthrough Genomics | 2 | 4 | 2 | 0 | 8 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 3 | 1 | 0 | 4 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 2 | 0 | 0 | 0 | 2 |
| PreventionGenetics, part of Exact Sciences | 0 | 2 | 0 | 0 | 2 |
| Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital | 1 | 0 | 0 | 0 | 1 |