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 |
|---|---|---|---|---|---|
| 6 | 8 | 7 | 0 | 0 | 21 |
Gene and significance breakdown #
Total genes and gene combinations: 14
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| LZTR1 | 1 | 1 | 3 | 5 |
| DMD | 2 | 0 | 0 | 2 |
| MYBPC3 | 0 | 2 | 0 | 2 |
| MYH6 | 0 | 0 | 2 | 2 |
| COLQ | 1 | 0 | 0 | 1 |
| MYL2 | 0 | 1 | 0 | 1 |
| PHOX2B | 0 | 1 | 0 | 1 |
| POC1A | 0 | 1 | 0 | 1 |
| POMT2 | 1 | 0 | 0 | 1 |
| PPP1CB | 0 | 1 | 0 | 1 |
| RAF1 | 0 | 0 | 1 | 1 |
| RYR1 | 1 | 0 | 0 | 1 |
| SHOC2 | 0 | 0 | 1 | 1 |
| SOS1 | 0 | 1 | 0 | 1 |
Condition and significance breakdown #
Total conditions: 15
| Condition | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| Hypertrophic cardiomyopathy | 0 | 2 | 2 | 4 |
| Noonan syndrome 10 | 1 | 0 | 2 | 3 |
| Hypertrophic cardiomyopathy 1 | 0 | 2 | 0 | 2 |
| Becker muscular dystrophy; Duchenne muscular dystrophy | 1 | 0 | 0 | 1 |
| Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | 0 | 1 | 0 | 1 |
| Congenital myasthenic syndrome 5 | 1 | 0 | 0 | 1 |
| Duchenne muscular dystrophy | 1 | 0 | 0 | 1 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 1 | 0 | 0 | 1 |
| Noonan syndrome 2; Noonan syndrome 10 | 0 | 0 | 1 | 1 |
| Noonan syndrome 4 | 0 | 1 | 0 | 1 |
| Noonan syndrome 5 | 0 | 0 | 1 | 1 |
| Noonan syndrome-like disorder with loose anagen hair 1 | 0 | 0 | 1 | 1 |
| Noonan syndrome-like disorder with loose anagen hair 2 | 0 | 1 | 0 | 1 |
| RYR1-related myopathy | 1 | 0 | 0 | 1 |
| Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | 0 | 1 | 0 | 1 |