Fig. 1: Evaluation process for genes nominated for addition to, or removal from, the American College of Medical Genetics and Genomics (ACMG) secondary findings SF list.

This diagram summarizes the ACMG Secondary Findings Maintenance Working Group (SFWG) process for nomination and consideration of genes potential inclusion on the v3.0 SF list. The SFWG referred to lists from other groups assessing actionability of genes along with gene-phenotype pairs considered for previous versions of the SF list. Candidate genes were triaged by SFWG subgroup members to prioritize genes based on the strength of available evidence, and nomination forms were created for those prioritized gene-phenotype pairs. All completed nomination forms, either from SFWG members or the community, were discussed by the full SFWG. All gene-phenotype pairs were assessed based on the criteria described in Table 1.