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 |
|---|---|---|---|---|---|---|
| 12 | 0 | 0 | 0 | 0 | 3 | 15 |
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination | pathogenic | not provided | total |
|---|---|---|---|
| PKD1 | 9 | 1 | 10 |
| EDA | 1 | 1 | 2 |
| PAX9 | 2 | 0 | 2 |
| PINK1 | 0 | 1 | 1 |
Condition and significance breakdown #
Total conditions: 5
| Condition | pathogenic | not provided | total |
|---|---|---|---|
| Polycystic kidney disease, adult type | 9 | 1 | 10 |
| Tooth agenesis, selective, 3 | 2 | 0 | 2 |
| Autosomal recessive early-onset Parkinson disease 6 | 0 | 1 | 1 |
| Hypohidrotic X-linked ectodermal dysplasia | 1 | 0 | 1 |
| Tooth agenesis, selective, X-linked, 1 | 0 | 1 | 1 |