American Society of Hematology, Blood Advances, 20(3), p. 2962-2979, 2019
DOI: 10.1182/bloodadvances.2019000644
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Key Points The ClinGen MM-VCEP has specified RUNX1-specific curation rules to address gene function, gene-specific domains, and phenotypic criteria. RUNX1-specific criteria resulted in a reduction in CONF and VUS variants by 33%, emphasizing the need for expert variant curation.