. Author manuscript; available in PMC: 2013 Jan 1.

Published in final edited form as: Hum Mutat. 2011 Nov 3;33(1):8–21. doi: 10.1002/humu.21627

Table 3. Proposed classification for DNA sequence variants and correlation of clinical recommendation with probability that any given alteration is deleterious.

Class	Definition	Posterior Probability	Clinical Testing	Surveillance recommendations
5	Definitely pathogenic	>0.99	Test at-risk relatives for the variant	Full high-risk surveillance
4	Likely pathogenic	0.95-0.99	Test at-risk relatives for the variant	Full high-risk surveillance
3	Uncertain	0.05-0.949	Do not use as predictive testing in at-risk relatives	Counsel based on family history and other risk factors
2	Likely not pathogenic	0.001-0.049	Do not use as predictive testing in at-risk relatives	Counsel as if no mutation detected
1	Not Pathogenic	<0.001	Do not use as predictive testing in at-risk relatives	Counsel as if no mutation detected