Table 1.
Clinical Significance of Different Types of Variants
| Coding variant type | Clinical significance | Count (%) |
|---|---|---|
| Deletion | P/LP | 7 (63.64) |
| VUS | 4 (36.36) | |
| Nonsense (truncating) | P/LP | 31 (93.94) |
| VUS | 1 (3.03) | |
| Conflicting interpretations of pathogenicity | 1 (3.03) | |
| Frame‐shift (truncating) | P/LP | 28 (84.85) |
| VUS | 5 (15.15) | |
| Missense (nontruncating) | B/LB | 9 (2.56) |
| P/LP | 6 (1.70) | |
| VUS | 308 (87.50) | |
| Conflicting interpretations of pathogenicity | 28 (7.95) |
B/LB indicates benign/likely benign; P/LP, pathogenic/likely pathogenic; and VUS, variant of uncertain significance.