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Fig. 1 | Genome Medicine

Fig. 1

From: Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

Fig. 1

Use of the PS3/BS3 criteria in Variant Curation Expert Panel (VCEP) pilot variant classification. a Comparison of PS3 criterion application at any strength level (purple) and BS3 criterion application at any strength level (orange) in the pilot variant classification of each VCEP. b Comparison of PS3 criterion application at any strength level (purple) and BS3 criterion application at any strength level (orange) to variants ultimately classified as variants of uncertain significance (VUS) in the pilot variant classification of each VCEP. c Comparison of the final classification (P, LP, VUS, LB, or B) of pilot variants with PS3/BS3 criteria (at any strength level). The CDH1 VCEP and the Inherited Cardiomyopathy-MYH7 VCEP did not use BS3 evidence in the interpretation of any pilot variants

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