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 | 156 | 22 | 5 | 1 | 180 |
Condition and significance breakdown #
Total conditions: 5
| Condition | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|
| not specified | 155 | 13 | 1 | 0 | 169 |
| not provided | 1 | 8 | 4 | 0 | 13 |
| CIC-rearranged sarcoma | 0 | 0 | 0 | 1 | 1 |
| Cowden syndrome | 1 | 0 | 0 | 0 | 1 |
| EBV-positive nodal T- and NK-cell lymphoma | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|
| Ambry Genetics | 155 | 12 | 0 | 0 | 167 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 8 | 3 | 0 | 11 |
| Breakthrough Genomics, Breakthrough Genomics | 1 | 0 | 1 | 0 | 2 |
| GeneDx | 0 | 0 | 1 | 0 | 1 |
| Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia | 0 | 1 | 0 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 1 | 0 | 0 | 0 | 1 |
| Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | 0 | 0 | 1 | 0 | 1 |
| Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | 0 | 0 | 1 | 0 | 1 |
| Children's Cancer Therapy Development Institute | 0 | 0 | 0 | 1 | 1 |
| Department of Clinical Pathology, School of Medicine, Fujita Health University | 0 | 1 | 0 | 0 | 1 |