Table 1 5 Class System
From: The introduction of a targeted next generation sequencing diagnostic service for MH
Class | Description | Interpretation |
|---|---|---|
1 | Clearly not pathogenic | MH not confirmed or excluded |
2 | Unlikely to be pathogenic | MH not confirmed or excluded |
3 | Variant of unknown significance (VUS) | MH not confirmed or excluded |
4 | Likely to be pathogenic | Consistent with diagnosis |
5 | Clearly pathogenic | Confirms diagnosis |