MTHFR and Rare hereditary thrombophilia: Using the ASQM, these three gene-disease pairs were scored as having higher actionability out of the two gene-disease associations that were considered for F9, GBA, and MTHFR. Thrombophilia associated with variants in F9, for which the outcome considered by our group was deep vein thrombosis, was given a lower gene-disease pair score than hemophilia B associated with F9 variants, due to limited evidence about penetrance.