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. Author manuscript; available in PMC: 2011 Apr 13.
Published in final edited form as: Hum Mutat. 2008 Nov;29(11):1282–1291. doi: 10.1002/humu.20880

Table 3.

Proposed Classification System for Sequence Variants Identified by Genetic Testing

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