Figure 3

Pathogenicity assessments of reported variants by inheritance class. All variants (including single-nucleotide variants, indels, copy-number variants, structural variants, uniparental disomy, and aneuploidies) that were classified by clinical teams as definitely/likely pathogenic were considered diagnostic, while those considered uncertain/likely benign/benign were not. The likelihood that a rare, functional de novo mutation in a dominant DDG2P gene is considered pathogenic is >80%, while the diagnostic yield from reported inherited variants is substantially less (10–30%). Note that variants of unknown and mosaic inheritance are excluded from the diagram due to low numbers (n < 10).