Table 1 Distribution of Pathogenic and Variant of Uncertain Significance (VUS) Large Rearrangements (LRs)a
From: Detection of large rearrangements in a hereditary pan-cancer panel using next-generation sequencing
Frequency | Deletion | Duplication | Insertion | Inversion | Triplication | Total |
|---|---|---|---|---|---|---|
VUS | 96 (4.5%) | 997 (79.1%) | 12 (22.2%) | 0 | 13 (54.2%) | 1118 (32.3%) |
Pathogenic | 2017 (95.5%) | 264 (20.9%) | 42 (77.8%) | 8 (100%) | 11 (45.8%) | 2342 (67.7%) |
Total | 2113 | 1261 | 54 | 8 | 24 | 3460 |