Table 2 Modified ClinVar review status adapted for this Consensus Statement on PPGLs driver genes
Original ClinVar classification | Modified classification | ||
---|---|---|---|
Number of gold stars | Description and review status | Evidence level | Specific applicability to PPGLs |
None | No submitter provided an interpretation with assertion criteria (no assertion criteria provided), or no interpretation was provided (no assertion provided) | 0 | N/A |
One | One submitter provided an interpretation with assertion criteria (criteria provided, single submitter) or multiple submitters provided assertion criteria but there are conflicting interpretations, in which case the independent values are enumerated for clinical significance (criteria provided, conflicting interpretations) | 1 | Single source (one published report) |
Two | Two or more submitters providing assertion criteria provided the same interpretation (criteria provided, multiple submitters, no conflicts) | 2 | Two or more sources without functional validation |
Three | Reviewed by expert panel | 3 | Two or more sources with some functional validation |
Four | Practice guideline | 4 | Established evidence from: clinical, genetic, computational prediction, functional evidence and/or analysis of population frequency |