Table 1. Finalized gene-disease validity terms from the modified Delphi survey.
The “evidence terms” set was chosen for the database display and has become the primary term set used across the GenCC.
| Finalized Gene-Disease Validity Terms | |
|---|---|
| Evidence Terms | Likelihood Terms |
| Definitivea | Definitivea |
| Strong | Confirmed |
| Moderate | Likely |
| Limited | Insufficient |
| Disputed Evidence | Disputed |
| Refuted Evidence | Refuted |
| No known disease relationship | No Known Disease Relationship |
| Animal Model Only | Animal Model Only |
a
Definitive was not surveyed as a separate term choice. Definitions for each term can be found in the supplement (Table S1)