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 |
|---|---|---|---|---|---|
| 23 | 30 | 3 | 0 | 0 | 56 |
Gene and significance breakdown #
Total genes and gene combinations: 9
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| RYR1 | 4 | 16 | 3 | 23 |
| GNAO1 | 4 | 6 | 0 | 10 |
| PCDH19 | 4 | 6 | 0 | 10 |
| TTN | 3 | 1 | 0 | 4 |
| ACTA1 | 2 | 0 | 0 | 2 |
| EEF1B2 | 2 | 0 | 0 | 2 |
| NEB | 2 | 0 | 0 | 2 |
| TNNT1 | 1 | 1 | 0 | 2 |
| DNM2 | 1 | 0 | 0 | 1 |
Condition and significance breakdown #
Total conditions: 16
| Condition | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| Congenital multicore myopathy with external ophthalmoplegia | 1 | 7 | 3 | 11 |
| Developmental and epileptic encephalopathy, 9 | 4 | 6 | 0 | 10 |
| Developmental and epileptic encephalopathy, 17; Neurodevelopmental disorder with involuntary movements | 2 | 4 | 0 | 6 |
| RYR1-related myopathy | 1 | 4 | 0 | 5 |
| Central core myopathy | 1 | 3 | 0 | 4 |
| Centronuclear myopathy | 2 | 2 | 0 | 4 |
| Actin accumulation myopathy | 2 | 0 | 0 | 2 |
| Developmental and epileptic encephalopathy, 17 | 1 | 1 | 0 | 2 |
| Global developmental delay | 2 | 0 | 0 | 2 |
| Multiminicore myopathy | 1 | 1 | 0 | 2 |
| Nemaline myopathy 2 | 2 | 0 | 0 | 2 |
| Nemaline myopathy 5 | 1 | 1 | 0 | 2 |
| Autosomal dominant centronuclear myopathy | 1 | 0 | 0 | 1 |
| Congenital myopathy with fiber type disproportion | 1 | 0 | 0 | 1 |
| Developmental delay | 1 | 0 | 0 | 1 |
| Neurodevelopmental disorder with involuntary movements | 0 | 1 | 0 | 1 |