Table 2 VIP Interpretation of all variants from DECIPHER
From: GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation
Clinical significance | VIP (Automated Pathogenicity Identifier module) | DECIPHER (Manual Pathogenicity Identifier) | Concordant |
|---|---|---|---|
Benign | 14 (0.1%) | 23 (0.3%) | 0 (0%) |
Likely Benign | 81 (0.9%) | 211 (2.4%) | 9 (0.2%) |
Uncertain significance | 3633 (42.2%) | 3329 (38.6%) | 2202 (48.9%) |
Likely pathogenic | 2692 (31.3%) | 2508 (29.1%) | 1055 (23.4%) |
Pathogenic | 2190 (25.4%) | 2539 (29.5%) | 1240 (27.5%) |
Sum of five tiers | 8610 | 8610 | 4506 |
Benign or likely benign | 95 (1.1%) | 234 (2.7%) | 9 (0.2%) |
Pathogenic or likely pathogenic | 4882 (56.7%) | 5047 (58.6%) | 3764 (83.5%) |