A: The variant NC_000022.11:g.29490657_29490660dup in gene NEFH is classified as 'Pathogenic' for Charcot-Marie-Tooth_disease_axonal_type_2CC. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0014836,MedGen:C4310790,OMIM:616924. Review status: no assertion criteria provided.