Figure 3.

(A) The evidence submitted to ClinVar is presented on two tabs. The Summary Evidence tab provides a summary of the evidence provided by each submitting organization, including the number of families and individuals observed with the variant, and summary values for allele origin, ethnicity and geographic origin. (B) The Supporting Observations tab provides the details of each observation submitted by each organization. The observation may be specific to an individual or to an aggregate group of individuals, and includes specific values for allele origin, ethnicity and geographic origin, as well as observed phenotypes.