Using a cutoff of 0.25 for the MVP score, the model’s specificities for the TCF4 episignature are 100% (relative, 99.41%, the sets of unaffected controls (individuals with no known rare genetic disorder or pathogenic or unknown significance variant), unresolved cases (those suspected to have genetic disorders but with no definitive genetic or EpiSign diagnosis), respectively. Here, TCF4 is linked to hereditary disease.