Collaborator: University of Melbourne
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The R659Q and K618A MLH1 variants (of uncertain significance and benign independently) are pathogenic when inherited in cis
MLH1 p.R659Q and p.K618A are independently classified as VUS and VLP These variants, in cis, segregate with disease in a family with a clinical diagnosis of Lynch syndrome Other phenotypic data and Bayesian analysis suggest this haplotype may be pathogenic If this combination of variants is proven to be pathogenic, it represents a new possibility…