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 | 66 | 42 | 5 | 103 |
Condition and significance breakdown #
Total conditions: 4
| Condition | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| Brugada syndrome | 48 | 22 | 4 | 74 |
| not specified | 24 | 26 | 1 | 50 |
| not provided | 3 | 7 | 2 | 10 |
| KCNE5-related disorder | 1 | 2 | 1 | 4 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 48 | 22 | 4 | 74 |
| Ambry Genetics | 23 | 25 | 0 | 48 |
| GeneDx | 0 | 5 | 1 | 6 |
| PreventionGenetics, part of Exact Sciences | 1 | 2 | 1 | 4 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 1 | 1 | 3 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 2 | 1 | 3 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 2 | 0 | 2 |
| Revvity Omics, Revvity | 1 | 0 | 0 | 1 |
| Clinical Genetics, Academic Medical Center | 1 | 0 | 0 | 1 |
| Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | 1 | 0 | 0 | 1 |
| Clinical Genetics Laboratory, Skane University Hospital Lund | 1 | 0 | 0 | 1 |