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 |
|---|---|---|---|---|---|
| 3 | 0 | 71 | 56 | 5 | 131 |
Condition and significance breakdown #
Total conditions: 5
| Condition | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| not provided | 0 | 61 | 52 | 5 | 118 |
| not specified | 0 | 16 | 4 | 1 | 21 |
| Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency | 3 | 1 | 0 | 0 | 4 |
| DNASE2-related disorder | 0 | 4 | 0 | 0 | 4 |
| Systemic lupus erythematosus | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 61 | 52 | 5 | 118 |
| Ambry Genetics | 0 | 15 | 4 | 0 | 19 |
| PreventionGenetics, part of Exact Sciences | 0 | 4 | 0 | 0 | 4 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 1 | 1 | 2 | 4 |
| OMIM | 3 | 0 | 0 | 0 | 3 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 2 | 0 | 2 |
| Revvity Omics, Revvity | 0 | 1 | 0 | 0 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 0 | 1 | 0 | 0 | 1 |
| Mayo Clinic Laboratories, Mayo Clinic | 0 | 1 | 0 | 0 | 1 |
| Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan | 0 | 0 | 0 | 1 | 1 |
| Experimental and Health Sciences Department, Universitat Pompeu Fabra | 0 | 1 | 0 | 0 | 1 |