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 |
|---|---|---|---|---|---|
| 1 | 0 | 25 | 3 | 13 | 42 |
Condition and significance breakdown #
Total conditions: 4
| Condition | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| not specified | 0 | 25 | 1 | 0 | 26 |
| not provided | 0 | 0 | 0 | 13 | 13 |
| ETV5-related disorder | 0 | 0 | 3 | 0 | 3 |
| Myoepithelial tumor | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 6
| Submitter | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Ambry Genetics | 0 | 25 | 1 | 0 | 26 |
| GeneDx | 0 | 0 | 0 | 9 | 9 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 0 | 9 | 9 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 0 | 0 | 4 | 4 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 3 | 0 | 3 |
| Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine | 1 | 0 | 0 | 0 | 1 |