A dMMR endometrial gland was identified in the carrier of MSH2 exon 1-6 duplication (ID_058), where the tumor also demonstrated MSI-H/dMMR by tumor sequencing, a somatic second hit in MSH2 and showed loss of MSH2/MSH6 expression by IHC; however, the ACMG/InSiGHT framework did not result in a reclassification of the VUS (Table 4). Here, MSH2 is linked to neoplasm.