FIGURE 1.

Flow of variants through identification and initial curation phases determining eligibility for classification. (A) 3′ UTR variants. (B) 5′ UTR variants. Variants were extracted from ClinVar, assigned an initial confidence level and filtered based on several factors before proceeding to classification. UTR, untranslated region; VUS, variant of uncertain significance. ^aCopy number variants include large insertions and deletions. Identified CNVs all exceeded 1,500 bp in length.