Clinical Domain Working Groups

The Myeloid Malignancy Variant Curation Expert Panel (MM-VCEP) curates variants in genes associated with inherited risk for myeloid malignancies. Our panel considers variants in genes that cause life-long thrombocytopenia (e.g., RUNX1, ANKRD26, and ETV6) as well as those associated only with cancer risk (e.g., GATA2, DDX41 and CEBPA).  The MM-VCEP has collaborated with ASH, and is currently supported by the National Cancer Institute. We aim to encourage standardized variant curation, which will improve variant reporting and facilitate optimal treatment of patients and their families.