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.

Key Points NGS-based prognostic panels may identify individuals at risk for HHMs despite not being designed for this purpose. Variant allele frequency >0.4 and gene of interest may be predictive of germ line origin.

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