Additionally, in DiscovEHR, significantly increased adjusted ORs were observed for risk of HM and MM development of GATA2, ETV6 and RUNX1 heterozygotes individually and combined (HM OR 4.0 [95%CI 1.7–9.5, p = 0.0016], MM OR 14 [95%CI 5.3–35, p < 0.0001]) (Fig. 3A, B). Here, RUNX1 is linked to Miyoshi myopathy.