Fig. 1

Secondary findings identification and classification workflow. Automatic filtering left 135 distinct variants for pathogenicity evaluation. According to the 2015 ACMG/AMP Standards and Guidelines, 11 variants were defined as secondary findings. SNV, single nucleotide variant; INDEL, insertion-deletion; MAF, minor allele frequencies; P/LP, pathogenic/likely pathogenic; HGMD, the Human Gene Mutation Database, professional version for release 2014.1; DM, disease-causing mutation; PTMs, protein truncating mutations; ACMG, the American College of Medical Genetics and Genomics; AMP, Association for Molecular Pathology