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

doi:10.1182/bloodadvances.2019000644

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

Blood advances - 22 Oct 2019

Luo Xi, Feurstein Simone, Mohan Shruthi, Porter Christopher C, Jackson Sarah A, Keel Sioban, Chicka Michael, Brown Anna L, Kesserwan Chimene, Agarwal Anupriya, Luo Minjie, Li Zejuan, Ross Justyne E, Baliakas Panagiotis, Pineda-Alvarez Daniel, DiNardo Courtney D, Bertuch Alison A, Mehta Nikita, Vulliamy Tom, Wang Ying, Nichols Kim E, Malcovati Luca, Walsh Michael F, Rawlings Lesley H, McWeeney Shannon K, Soulier Jean, Raimbault Anna, Routbort Mark J, Zhang Liying, Ryan Gabriella, Speck Nancy A, Plon Sharon E, Wu David, Godley Lucy A

Abstract excerpt

Standardized variant curation is essential for clinical care recommendations for patients with inherited disorders. Clinical Genome Resource (ClinGen) variant curation expert panels are developing disease-associated gene specifications using the 2015 American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) guidelines to reduce curation discrepancies. The ClinGen...

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PMID: 31648317
DOI: 10.1182/bloodadvances.2019000644
PMCID: PMC6849945

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RUNX1

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