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 | not provided | total |
|---|---|---|---|---|---|---|
| 0 | 3 | 919 | 582 | 224 | 1 | 1642 |
Condition and significance breakdown #
Total conditions: 15
| Condition | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|
| Hypertrophic cardiomyopathy | 1 | 728 | 437 | 94 | 0 | 1258 |
| Inborn genetic diseases | 0 | 331 | 216 | 5 | 0 | 552 |
| not provided | 0 | 18 | 22 | 153 | 0 | 192 |
| not specified | 0 | 24 | 31 | 52 | 0 | 106 |
| MYOM1-related condition | 0 | 2 | 33 | 19 | 0 | 54 |
| Cardiovascular phenotype | 0 | 8 | 3 | 16 | 0 | 27 |
| Primary familial hypertrophic cardiomyopathy | 0 | 5 | 1 | 0 | 0 | 6 |
| Arrhythmogenic right ventricular cardiomyopathy | 0 | 1 | 0 | 0 | 0 | 1 |
| Cardiac arrest | 0 | 1 | 0 | 0 | 0 | 1 |
| Cardiomyopathy | 0 | 1 | 0 | 0 | 0 | 1 |
| Hypoglycemia; Abnormality of the liver | 1 | 0 | 0 | 0 | 0 | 1 |
| MYOM1-related disorder | 0 | 0 | 0 | 0 | 1 | 1 |
| Non-immune hydrops fetalis | 1 | 0 | 0 | 0 | 0 | 1 |
| Primary dilated cardiomyopathy | 0 | 1 | 0 | 0 | 0 | 1 |
| Sudden cardiac death | 0 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 19