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 | not provided | total |
|---|---|---|---|---|---|---|
| 0 | 0 | 6 | 5 | 3 | 1 | 15 |
Condition and significance breakdown #
Total conditions: 7
| Condition | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|
| not specified | 5 | 1 | 2 | 0 | 8 |
| not provided | 0 | 2 | 2 | 0 | 4 |
| Severe combined immunodeficiency due to DCLRE1C deficiency | 1 | 0 | 1 | 0 | 2 |
| DCLRE1C-related disorder | 0 | 1 | 0 | 0 | 1 |
| Histiocytic medullary reticulosis | 0 | 0 | 1 | 0 | 1 |
| SUV39H2-related disorder | 0 | 1 | 0 | 0 | 1 |
| Severe combined immunodeficiency due to DCLRE1C deficiency; Histiocytic medullary reticulosis | 0 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 8
| Submitter | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|
| Ambry Genetics | 5 | 1 | 0 | 0 | 6 |
| PreventionGenetics, part of Exact Sciences | 0 | 2 | 0 | 0 | 2 |
| Labcorp Genetics (formerly Invitae), Labcorp | 1 | 0 | 1 | 0 | 2 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 2 | 0 | 0 | 2 |
| Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan | 0 | 0 | 2 | 0 | 2 |
| Genome-Nilou Lab | 0 | 0 | 1 | 0 | 1 |
| GenomeConnect - Invitae Patient Insights Network | 0 | 0 | 0 | 1 | 1 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 1 | 0 | 1 |