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Chicka, Michael C.

A5086159506

Mayo Clinic

PreventionGenetics, Marshfield, WI;

Citations 1

ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants

Blood Advances | October 16, 2019 | Volume: 3 | Issue: 20 | Pages: 2962-2979

10.1182/bloodadvances.2019000644 | PMID 31648317

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.