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 |
|---|---|---|---|---|---|
| 0 | 1 | 177 | 71 | 17 | 255 |
Condition and significance breakdown #
Total conditions: 7
| Condition | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| not specified | 0 | 125 | 47 | 3 | 174 |
| not provided | 1 | 82 | 36 | 16 | 132 |
| RECON progeroid syndrome | 0 | 11 | 1 | 2 | 14 |
| Hereditary cancer-predisposing syndrome | 0 | 10 | 0 | 0 | 10 |
| RECQL-related disorder | 0 | 2 | 0 | 0 | 2 |
| Familial ovarian cancer | 0 | 0 | 0 | 1 | 1 |
| Hereditary breast ovarian cancer syndrome | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Ambry Genetics | 0 | 125 | 47 | 0 | 172 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 70 | 25 | 6 | 101 |
| GeneDx | 1 | 20 | 13 | 14 | 48 |
| Quest Diagnostics Nichols Institute San Juan Capistrano | 0 | 17 | 0 | 0 | 17 |
| Mendelics | 0 | 10 | 0 | 1 | 11 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 2 | 3 | 6 | 11 |
| Fulgent Genetics, Fulgent Genetics | 0 | 9 | 0 | 0 | 9 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 3 | 1 | 3 | 7 |
| PreventionGenetics, part of Exact Sciences | 0 | 2 | 0 | 0 | 2 |
| Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) | 0 | 1 | 0 | 0 | 1 |
| Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | 0 | 1 | 0 | 0 | 1 |
| Cancer Genomics Group, Japanese Foundation For Cancer Research | 0 | 1 | 0 | 0 | 1 |