Table 2.
BIC | ClinVar | HGMD | LOVD | UMD | |
---|---|---|---|---|---|
A “master” classification is assigned | Yes | No | Yes | No | Yes |
Pathogenic classifications | 305 | 172 | 536 | 62 | 201 |
Benign classifications | 84 | 172 | 12 | 256 | 199 |
VUS classifications | 645 | 93 | 0 | 91 | 434 |
Conflicting classifications | N/A | 18 | N/A | 61 | N/A |
Total unique variants | 1034 | 455 | 548 | 470 | 834 |