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 |
|---|---|---|---|---|---|---|
| 0 | 0 | 0 | 0 | 0 | 22 | 22 |
Gene and significance breakdown #
Total genes and gene combinations: 8
| Gene or gene combination | not provided | total |
|---|---|---|
| A2ML1 | 6 | 6 |
| PTPN11 | 6 | 6 |
| CBL | 3 | 3 |
| RAF1 | 2 | 2 |
| SOS1 | 2 | 2 |
| BRAF | 1 | 1 |
| RIT1 | 1 | 1 |
| SHOC2 | 1 | 1 |
Condition and significance breakdown #
Total conditions: 8
| Condition | not provided | total |
|---|---|---|
| Noonan syndrome 1 | 6 | 6 |
| not provided | 6 | 6 |
| CBL-related disorder | 3 | 3 |
| Noonan syndrome 4 | 2 | 2 |
| Noonan syndrome 5 | 2 | 2 |
| Cardiofaciocutaneous syndrome 1 | 1 | 1 |
| Noonan syndrome 8 | 1 | 1 |
| Noonan syndrome-like disorder with loose anagen hair 1 | 1 | 1 |