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 | 108 | 8 | 2 | 119 |
Condition and significance breakdown #
Total conditions: 4
| Condition | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| not specified | 0 | 106 | 5 | 1 | 112 |
| See cases | 0 | 2 | 0 | 1 | 3 |
| not provided | 0 | 0 | 3 | 0 | 3 |
| Myoepithelial tumor | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 6
| Submitter | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Ambry Genetics | 0 | 106 | 5 | 0 | 111 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 3 | 0 | 3 |
| ISCA Site 6 | 0 | 1 | 0 | 1 | 2 |
| ISCA site 1 | 0 | 1 | 0 | 0 | 1 |
| Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine | 1 | 0 | 0 | 0 | 1 |
| Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University | 0 | 0 | 0 | 1 | 1 |