Table 1.

Distribution of the evidential deficiencies of causality (gene–disease association, phenotype–disease association, disease mechanism) for 145 variants listed on 289 clinical exome reports

Inadequate Evidential Feature	Classificationa	Number of Variantsb	% Reported Variants
Gene–disease association	Preliminary	31	8.2
	None	9	2.4
	Total	40	10.5
Phenotype–disease association	Preliminary	15	3.9
	None	88	23
	Total	103	27
Disease mechanism	Inconsistent	68	17.9
	Unknown	10	2.6
	Total	78	20.5

^aSee Supplemental Table 1 for definitions of the classifications.

^bThe total number of variants deficient for each evidential category. This is distinct from Figure 1 that shows where in the process variants were removed from consideration.