Novel Implications in Molecular Diagnosis of Lynch Syndrome

Table 2

Proposed classification system for MMR variant interpretation (Colon Cancer Family Registry 2009, InSiGHT Variant Interpretation Committee 2011).

Class	Description	Probability of being pathogenic
5	Definitely pathogenic	>0.99
4	Likely pathogenic	0.95–0.99
3	Uncertain	0.05–0.949
2	Likely not pathogenic or of little clinical significance	0.001–0.049
1	Not pathogenic or of no clinical significance	<0.001