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 |
|---|---|---|---|---|---|
| 0 | 1 | 17 | 6 | 1 | 22 |
Condition and significance breakdown #
Total conditions: 10
| Condition | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 1 | 15 | 4 | 1 | 21 |
| Cardiovascular phenotype | 1 | 1 | 4 | 1 | 7 |
| not provided | 0 | 3 | 2 | 1 | 5 |
| not specified | 0 | 2 | 1 | 1 | 3 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 0 | 0 | 0 | 1 | 1 |
| Dilated cardiomyopathy 1G | 0 | 0 | 1 | 0 | 1 |
| Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 0 | 0 | 1 | 0 | 1 |
| Early-onset myopathy with fatal cardiomyopathy | 0 | 0 | 0 | 1 | 1 |
| Myopathy, myofibrillar, 9, with early respiratory failure | 0 | 0 | 0 | 1 | 1 |
| Tibial muscular dystrophy | 0 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 22