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 |
|---|---|---|---|---|---|
| 3 | 8 | 0 | 0 | 1 | 12 |
Gene and significance breakdown #
Total genes and gene combinations: 8
| Gene or gene combination | pathogenic | likely pathogenic | benign | total |
|---|---|---|---|---|
| MYBPC3 | 0 | 4 | 0 | 4 |
| DSP | 0 | 2 | 0 | 2 |
| PKP2 | 1 | 0 | 0 | 1 |
| RNF167 | 0 | 0 | 1 | 1 |
| SLC22A5 | 1 | 0 | 0 | 1 |
| TMEM43 | 1 | 0 | 0 | 1 |
| TNNI3 | 0 | 1 | 0 | 1 |
| TTN | 0 | 1 | 0 | 1 |
Condition and significance breakdown #
Total conditions: 6
| Condition | pathogenic | likely pathogenic | benign | total |
|---|---|---|---|---|
| Left ventricular noncompaction 10 | 0 | 4 | 0 | 4 |
| Arrhythmogenic right ventricular dysplasia 9 | 1 | 2 | 0 | 3 |
| Renal carnitine transport defect | 1 | 0 | 1 | 2 |
| Arrhythmogenic right ventricular dysplasia 5 | 1 | 0 | 0 | 1 |
| Dilated cardiomyopathy 1FF | 0 | 1 | 0 | 1 |
| Interstitial cardiac fibrosis | 0 | 1 | 0 | 1 |