Skip to main content
. Author manuscript; available in PMC: 2015 Nov 1.
Published in final edited form as: Genet Med. 2015 Mar 5;17(5):405–424. doi: 10.1038/gim.2015.30

Figure 1. Evidence Framework.

Figure 1

The following chart organizes each of the criteria by the type of evidence as well as the strength of the criteria for a benign (left side) or pathogenic (right side) assertion. Evidence code descriptions can be found in Tables 3 and 4. Abbreviations: BS, benign strong; BP, benign supporting; FH, family history; LOF, loss-of-function; MAF, minor allele frequency; path., pathogenic; PM, pathogenic moderate; PP, pathogenic supporting; PS, pathogenic strong; PVS, pathogenic very strong