Table 2.
Top VKGL‐InterVar conflicting genes
| Gene | VKGL total number of classifications | VKGL‐ Intervar conflicts | Consensus VKGL P → InterVar B | 1 VKGL lab B → InterVar P | 1 VKGL lab P → InterVar B | VKGL opposing classifications |
|---|---|---|---|---|---|---|
| APOB | 407 | 9 | 0 | 0 | 9 | 0 |
| PCSK9 | 163 | 9 | 0 | 0 | 9 | 0 |
| LDLR | 300 | 9 | 0 | 0 | 9 | 0 |
| NF1 | 908 | 5 | 0 | 2 | 3 | 0 |
| PAH | 115 | 5 | 0 | 0 | 5 | 0 |
| SCN5A | 352 | 5 | 0 | 1 | 4 | 1 |
| MEFV | 290 | 4 | 3 | 0 | 1 | 0 |
| SLCO1B1 | 76 | 4 | 0 | 1 | 3 | 1 |
| STS | 10 | 3 | 0 | 3 | 0 | 0 |
| APOA5 | 33 | 3 | 0 | 0 | 3 | 0 |
Note: The genes with the most VKGL‐InterVar classification conflicts are APOB, PCSK9, and LDLR, each with nine conflicts. Across 82,111 investigated variants we found 254 conflicts (shown here: 56), of which 21 originated from consensus variants (shown here: 3).
Abbreviation: VKGL, Vereniging Klinisch Genetische Laboratoriumdiagnostiek.