Figure 1.

Visualization of current standard of care – Implied cancer relative risk from variant classification for dominant diseases with incomplete penetrance. Boxes indicate confidence intervals for relative risk. Solid vertical lines represent point estimates for relative risk for which data exists. Dotted vertical lines represent assumed point estimates not supported by independent, variant-specific studies. * High risk is specific to disease and gene and is defined by variants that completely eliminate one functional copy of the gene; this is the theoretical upper limit of risk conferred by a heterozygous variant in a specific gene.