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 |
|---|---|---|---|---|---|
| 11 | 9 | 5 | 0 | 0 | 25 |
Gene and significance breakdown #
Total genes and gene combinations: 5
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| DNM2 | 7 | 2 | 4 | 13 |
| RYR1 | 0 | 4 | 0 | 4 |
| TTN | 2 | 2 | 0 | 4 |
| MTM1 | 2 | 0 | 1 | 3 |
| ACTA1 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 6
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| Genetic Services Laboratory, University of Chicago | 7 | 2 | 4 | 13 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 1 | 4 | 0 | 5 |
| Pediatric Department, Peking University First Hospital | 2 | 2 | 0 | 4 |
| Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital | 1 | 0 | 1 | 2 |
| Harry Perkins Institute Of Medical Research, University Of Western Australia | 0 | 1 | 0 | 1 |
| Molecular Genetics, Royal Melbourne Hospital | 1 | 0 | 0 | 1 |