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 | 3 | 3 | 0 | 0 | 12 |
Gene and significance breakdown #
Total genes and gene combinations: 11
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| MUSK | 0 | 2 | 0 | 2 |
| ABCC9 | 1 | 0 | 0 | 1 |
| ADCY5 | 1 | 0 | 0 | 1 |
| HCN4 | 0 | 0 | 1 | 1 |
| KCNB1 | 1 | 0 | 0 | 1 |
| LYST | 0 | 1 | 0 | 1 |
| MYH6 | 0 | 0 | 1 | 1 |
| PHF6 | 1 | 0 | 0 | 1 |
| RYR2 | 1 | 0 | 0 | 1 |
| SMARCAL1 | 1 | 0 | 0 | 1 |
| TRPM4 | 0 | 0 | 1 | 1 |
Condition and significance breakdown #
Total conditions: 10
| Condition | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| Congenital myasthenic syndrome 9 | 0 | 2 | 0 | 2 |
| Sudden cardiac death | 0 | 0 | 2 | 2 |
| Borjeson-Forssman-Lehmann syndrome | 1 | 0 | 0 | 1 |
| Developmental and epileptic encephalopathy, 26 | 1 | 0 | 0 | 1 |
| Dyskinesia with orofacial involvement, autosomal dominant | 1 | 0 | 0 | 1 |
| Hypertrichotic osteochondrodysplasia Cantu type | 1 | 0 | 0 | 1 |
| Hypertrophic cardiomyopathy 14 | 0 | 0 | 1 | 1 |
| Recurrent infections | 0 | 1 | 0 | 1 |
| Schimke immuno-osseous dysplasia | 1 | 0 | 0 | 1 |
| Ventricular fibrillation | 1 | 0 | 0 | 1 |