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 | 0 | 24 | 2 | 1 | 27 |
Condition and significance breakdown #
Total conditions: 4
| Condition | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| Inborn genetic diseases | 20 | 1 | 0 | 21 |
| not provided | 2 | 1 | 1 | 4 |
| Aortic aneurysm, familial thoracic 8 | 1 | 0 | 0 | 1 |
| not specified | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 5
| Submitter | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| Ambry Genetics | 20 | 1 | 0 | 21 |
| Invitae | 1 | 1 | 0 | 2 |
| Quest Diagnostics Nichols Institute San Juan Capistrano | 2 | 0 | 0 | 2 |
| ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories | 1 | 0 | 0 | 1 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 1 | 1 |