Fig. 3
From: Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing
Impact on pathogenic variants by each annotation. (a) Registration status of the pathogenic variants in ClinVar. Classifications are shown with variant numbers and percentage. P/LP, pathogenic/likely pathogenic; VUS, variant of uncertain significance. (b) Relationship between ClinVar and SpliceAI annotations in 271 pathogenic single nucleotide variants (SNVs). The numbers indicate the number of variants. (c) Distribution of max score in the PhenoMatcher module for each gene. NA, Not available phenotype data.
