Published in
American Society of Hematology, Blood Advances, 20(3), p. 2962-2979, 2019
DOI: 10.1182/bloodadvances.2019000644
Links
Tools
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants
Journal article published in 2019 by
Xi Luo,
Simone Feurstein 
,
Shruthi Mohan ,
Christopher C. Porter ,
Sarah A. Jackson,
Sioban Keel,
Michael Chicka,
Anna L. Brown ,
Chimene Kesserwan ,
Anupriya Agarwal,
Minjie Luo ,
Zejuan Li,
Justyne E. Ross ,
Panagiotis Baliakas,
Daniel Pineda-Alvarez
and other authors.
,
Shruthi Mohan ,
Christopher C. Porter ,
Sarah A. Jackson,
Sioban Keel,
Michael Chicka,
Anna L. Brown ,
Chimene Kesserwan ,
Anupriya Agarwal,
Minjie Luo ,
Zejuan Li,
Justyne E. Ross ,
Panagiotis Baliakas,
Daniel Pineda-Alvarez
and other authors.
This paper is made freely available by the publisher.
Full text: Download
Preprint: archiving forbidden
Postprint:
archiving forbidden
Data provided by 
Abstract
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.