A: The variant NC_000022.11:g.29481146G>C in gene NEFH is classified as 'Likely_pathogenic' for Charcot-Marie-Tooth_disease_axonal_type_2C. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0011633,MedGen:C1853710,OMIM:606071,Orphanet:99937. Review status: criteria provided, single submitter.