Figure 4.

Reported variant classification. (A) ClinVar classification of the reported founder variants. (B) American College of Medical Genetics and Genomics (ACMG) and Association of Medical Pathology (AMP) guideline classification of reported founder variants. (C) A pie chart showing the different genes and proportions reported for NSHI founder mutations. (D) The number, proportions, and types of variants reported. (E) ClinVar and ACMG/AMP proportions compared. P = Pathogenic; LP = Likely pathogenic; B = Benign; LB = Likely benign; US = Uncertain significance; and NR = Not reported. Note: (A) and (B) were normalized by adding “+1” to all values obtained for each category to obtained consistent color coding of sections.