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 |
|---|---|---|---|---|---|
| 12 | 0 | 15 | 1 | 1 | 27 |
Condition and significance breakdown #
Total conditions: 7
| Condition | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Tuberous sclerosis 2 | 8 | 13 | 0 | 0 | 21 |
| not provided | 1 | 6 | 1 | 1 | 7 |
| See cases | 3 | 0 | 0 | 0 | 3 |
| Hereditary cancer-predisposing syndrome | 0 | 1 | 1 | 0 | 2 |
| not specified | 0 | 2 | 0 | 0 | 2 |
| Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 0 | 1 | 0 | 0 | 1 |
| NTHL1-related condition | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 8
| Submitter | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Invitae | 9 | 14 | 1 | 0 | 24 |
| GeneDx | 3 | 2 | 0 | 0 | 5 |
| Ambry Genetics | 0 | 1 | 1 | 0 | 2 |
| Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital | 0 | 2 | 0 | 0 | 2 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 1 | 0 | 1 |
| Sema4, Sema4 | 0 | 0 | 1 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 1 | 0 | 0 | 1 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 0 | 1 | 1 |