Analysis and interpretation of clinical data
Sanger sequencing was carried out for gene variations that may correlate
with the clinical phenotype of subjects. The pathogenicity of gene
variations is classified into five degrees: ”pathogenic”, ”possibly
pathogenic”, ”uncertain significance”, ”possibly benign”, and ”benign”
according to the classification standard of the American College of
Medical Genomics (ACMG) (Richards et al., 2015).