1. Phenotype association | |||||
 | Weak | Medium | Strong | ||
 Disease association score (0–5) | pLI > 0.9 RVIS < 10 HI < 10 DDG2P OMIM | > 0 | > 0 | > 2 | |
 Total phenomatch score | > 0 | > 4 | > 10 | ||
 Phenomatches (% of HPO terms with phenomatch score > 5) | > 0 | > 10% | > 25% | ||
 Mode of inheritance |  | AD/XD/XR+XY | AD/XD/XR+XY | ||
2. Effect of SV on gene | |||||
 | Weak | Strong | |||
 Gene location | Adjacent | Dup | Adjacent | DEL/TRUNC | |
  Support score (0–6) | TAD disrupted V4C disrupted PCHiC disrupted DHS disrupted RNA expression | > 1 | NA | > 3 | NA |
3. Driver classification | |||||
 Classification | T3 | T2 | T1 | ||
  Phenotype association + effect of SV on gene | Weak + weak | Strong + weak | Medium + strong | Strong + strong |