Internal Standardization of the Interpretation and Reporting of Sequence Variants in Hematologic Neoplasms.
Nikita MehtaRong HeDavid S ViswanathaPublished in: Molecular diagnosis & therapy (2021)
Well-established oncogenic alterations were accurately classified as pathogenic. Although there is no defined benchmark for the remaining variants, drawing from two existing guidelines enabled the creation of a modified curation process for variant interpretation that emphasizes systematic review of relevant evidence.