Table 1 Parental follow-up studies
Variant classification | Variant origin | ||
|---|---|---|---|
De novo | Maternal | Paternal | |
Pathogenic | 17 | 2 | 0 |
Likely pathogenic | 3 | 0 | 0 |
VUS—possibly pathogenic | 2 | 0 | 1 |
VUS—uncertain significance | 2 | 8 | 6 |
VUS—possibly benign | 0 | 4 | 2 |
Variant classification | Variant origin | ||
|---|---|---|---|
De novo | Maternal | Paternal | |
Pathogenic | 17 | 2 | 0 |
Likely pathogenic | 3 | 0 | 0 |
VUS—possibly pathogenic | 2 | 0 | 1 |
VUS—uncertain significance | 2 | 8 | 6 |
VUS—possibly benign | 0 | 4 | 2 |