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 |
|---|---|---|---|---|---|
| 5 | 0 | 36 | 46 | 12 | 91 |
Condition and significance breakdown #
Total conditions: 6
| Condition | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| not provided | 5 | 5 | 43 | 11 | 63 |
| Inborn genetic diseases | 0 | 23 | 2 | 0 | 25 |
| Iodotyrosyl coupling defect | 0 | 9 | 1 | 3 | 13 |
| not specified | 0 | 1 | 0 | 3 | 4 |
| Iodotyrosyl coupling defect; Autoimmune thyroid disease, susceptibility to, 3 | 0 | 1 | 0 | 0 | 1 |
| TG-related condition | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Invitae | 5 | 0 | 40 | 7 | 52 |
| Ambry Genetics | 0 | 23 | 2 | 0 | 25 |
| Illumina Laboratory Services, Illumina | 0 | 8 | 1 | 3 | 12 |
| GeneDx | 0 | 4 | 0 | 5 | 9 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 1 | 3 | 0 | 4 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 1 | 2 | 3 |
| Clinical Genetics, Academic Medical Center | 0 | 0 | 0 | 3 | 3 |
| Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | 0 | 0 | 1 | 2 | 3 |
| Revvity Omics, Revvity | 0 | 2 | 0 | 0 | 2 |
| Genome-Nilou Lab | 0 | 0 | 0 | 2 | 2 |
| Genetic Services Laboratory, University of Chicago | 0 | 1 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 1 | 0 | 0 | 1 |