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Fig. 3 | Genome Medicine

Fig. 3

From: Recommendations for clinical interpretation of variants found in non-coding regions of the genome

Fig. 3

ACMG 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 tools

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