Citations 1
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants
Luo, Xi , Feurstein, Simone , Mohan, Shruthi , Jackson, Sarah A. , Keel, Sioḃán , Chicka, Michael C., Brown, Anna , Agarwal, Anupriya , Luo, Minjie , Li, Zejuan , Ross, Justyne , Pineda‐Alvarez, Daniel , Bertuch, Alison A. , Mehta, Nikita , Vulliamy, Tom, Wang, Ying , Nichols, Kim E. , Malcovati, Luca , Walsh, Michael F. , Rawlings, Lesley , Soulier, Jean , Raimbault, Anna , Zhang, Liying , Ryan, Gabriella, Speck, Nancy A. , Wu, David , Godley, Lucy A. , Malcovati, Luca , Godley, Lucy A , Brown, Anna L , Jackson, Sarah A , Nichols, Kim E , Porter, Christopher C. , Kesserwan, Chimene A. , Baliakas, Panagiotis , DiNardo, Courtney D. , McWeeney, Shannon K. , Routbort, Mark J. , Ryan, Gabriella, Plon, Sharon E.
Blood Advances | October 16, 2019 | Volume: 3 | Issue: 20 | Pages: 2962-2979
10.1182/bloodadvances.2019000644
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.