Fig. 3From: Recommendations for clinical interpretation of variants found in non-coding regions of the genomeACMG evidence framework for non-coding region variants. An adapted version of the figure from Richards et al. [30] (permission granted). Rules that require no extra guidance for non-coding region variants are written in black, with those requiring extra considerations or adaptation in colour. †Should not be applied if the assay only assessed one of multiple possible mechanisms. ^Reduced to supporting following guidance from ClinGen SVI [50]. $Variant must have at least as great an impact predicted by in silico toolsBack to article page