Sankey from Scientific Research

Reclassification paths of P/LP screened IEM ClinVar variants from 2014 (or first submission thereafter) to 2020, visualized in a Sankey plot in which line width represents the number of reclassified variants. Blue lines indicate increasing pathogenicity or review stars, orange lines indicate increasing benignity or reduced confidence of pathogenicity, and gray lines indicate no change. Numbers in parentheses provide variant counts of initial and final classifications for each category.

DOI