Table III.
Variants’ classification according to ACMG guidelines
| Gene | Class 1 + 2 | Class 3 | Class 4 + 5 | Total |
|---|---|---|---|---|
| MYBPC3 | 34 | 8 | 42 | 84 |
| MYH7 | 15 | 8 | 14 | 37 |
| SCN5A | 10 | 0 | 1 | 11 |
| TNNT2 | 3 | 2 | 5 | 10 |
| DSP | 8 | 1 | 0 | 9 |
| ACTN2 | 7 | 1 | 0 | 8 |
| CSRP3 | 1 | 6 | 0 | 7 |
| MYH6 | 5 | 1 | 0 | 6 |
| MYOM1 | 1 | 3 | 0 | 4 |
| RAF1 | 1 | 0 | 3 | 4 |
| DSG2 | 3 | 0 | 0 | 3 |
| MYL2 | 3 | 0 | 0 | 3 |
| CACNA1C | 2 | 1 | 0 | 3 |
| GLA | 0 | 0 | 2 | 2 |
| NEBL | 0 | 2 | 0 | 2 |
| MYL3 | 0 | 0 | 2 | 2 |
| TNNI3 | 0 | 0 | 1 | 1 |
| TPM1 | 0 | 0 | 1 | 1 |
| PTPN11 | 0 | 0 | 1 | 1 |
ACMG – American College of Medical Genetics and Genomics, class 1 denotes benign, class 2 likely benign, class 3 of uncertain significance, class 4 likely pathogenic, and class 5 pathogenic variants.