Extended Data Fig. 10: Comparison of ACMG/AMP classification of BRCA2 SNVs by ESC-based BRCA2 SGE with VarSome and HAP1 cell line-based MAVE classification.
From: Saturation genome editing-based clinical classification of BRCA2 variants
a, Sankey plot representing the concordance between ACMG/AMP classification performed by VarSome and ESC-based BRCA2 SGE. The number of VUSs also reduced by integrating our SGE functional assay data into PS3/BS3 evidence categories. b, Sankey plot represents the concordance between ESC-based BRCA2 SGE and cell viability-based MAVEs developed using human HAP1 cell line.
