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 | 59 | 39 | 30 | 124 |
Condition and significance breakdown #
Total conditions: 4
| Condition | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| not provided | 31 | 35 | 29 | 95 |
| not specified | 28 | 2 | 0 | 30 |
| CTSB-related disorder | 0 | 4 | 6 | 10 |
| Keratolytic winter erythema | 1 | 0 | 2 | 3 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 30 | 31 | 29 | 90 |
| Ambry Genetics | 26 | 1 | 0 | 27 |
| Breakthrough Genomics, Breakthrough Genomics | 2 | 3 | 17 | 22 |
| PreventionGenetics, part of Exact Sciences | 0 | 4 | 6 | 10 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 3 | 0 | 3 |
| Genome-Nilou Lab | 0 | 0 | 2 | 2 |
| GeneDx | 0 | 1 | 0 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 0 | 0 | 1 |
| Mendelics | 1 | 0 | 0 | 1 |
| Bionano Laboratories | 1 | 0 | 0 | 1 |
| Quest Diagnostics Nichols Institute San Juan Capistrano | 0 | 1 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 1 | 0 | 0 | 1 |