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

ABSTRACT: 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 Myeloid Malignancy Variant Curation Expert Panel (MM-VCEP) was created collaboratively between the American Society of Hematology and ClinGen to perform gene- and disease-specific modifications for inherited myeloid malignancies. The MM-VCEP began optimizing ACMG/AMP rules for RUNX1 because many germline variants have been described in patients with familial platelet disorder with a pre

SUBMITTER: Luo X 

PROVIDER: S-EPMC6849945 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature