Incorporation of somatic data in variant curation can assist in determining the pathogenicity of a novel variant; for example, somatic DDX41 mutations are often detected in individuals with myeloid malignancy with a germline DDX41 variant (80% of cases) but vary rarely seen in the absence of a pathogenic germline DDX41 variant (219, 220). Here, DDX41 is linked to myeloid neoplasm.