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 |
|---|---|---|---|---|---|---|
| 2 | 0 | 4 | 10 | 8 | 5 | 27 |
Condition and significance breakdown #
Total conditions: 6
| Condition | pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|
| not provided | 0 | 0 | 10 | 8 | 0 | 18 |
| Tuberous sclerosis syndrome | 0 | 0 | 0 | 0 | 5 | 5 |
| Tuberous sclerosis 2 | 1 | 3 | 0 | 0 | 0 | 4 |
| Polycystic kidney disease, adult type | 1 | 1 | 0 | 0 | 0 | 2 |
| Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 0 | 1 | 0 | 0 | 0 | 1 |
| not specified | 0 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 8
| Submitter | pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|
| GeneDx | 0 | 0 | 10 | 8 | 0 | 18 |
| Tuberous sclerosis database (TSC2) | 0 | 0 | 0 | 0 | 5 | 5 |
| Invitae | 1 | 3 | 0 | 0 | 0 | 4 |
| Institute of Human Genetics, Cologne University | 0 | 1 | 0 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 1 | 0 | 0 | 0 | 1 |
| Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare | 0 | 1 | 0 | 0 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 0 | 1 | 0 | 1 |
| Cavalleri Lab, Royal College of Surgeons in Ireland | 1 | 0 | 0 | 0 | 0 | 1 |