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 | 3 | 14 | 3 | 0 | 18 |
Condition and significance breakdown #
Total conditions: 7
| Condition | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|
| Li-Fraumeni syndrome | 2 | 5 | 0 | 6 |
| Dyskeratosis Congenita, Recessive | 0 | 3 | 0 | 3 |
| Hereditary cancer-predisposing syndrome | 1 | 1 | 1 | 3 |
| Li-Fraumeni syndrome 1 | 0 | 3 | 0 | 3 |
| not provided | 0 | 3 | 0 | 3 |
| not specified | 0 | 2 | 1 | 3 |
| Squamous cell carcinoma of the head and neck | 0 | 1 | 1 | 2 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 1 | 4 | 0 | 5 |
| GeneDx | 0 | 3 | 1 | 4 |
| Illumina Laboratory Services, Illumina | 0 | 4 | 0 | 4 |
| Genetic Services Laboratory, University of Chicago | 0 | 2 | 0 | 2 |
| Mendelics | 0 | 1 | 1 | 2 |
| Ambry Genetics | 1 | 0 | 0 | 1 |
| Sema4, Sema4 | 0 | 1 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 1 | 0 | 0 | 1 |
| University of Washington Department of Laboratory Medicine, University of Washington | 0 | 0 | 1 | 1 |