A: The variant NC_000022.11:g.50462446_50462447del in gene SBF1 is classified as 'Pathogenic/Likely_pathogenic' for Charcot-Marie-Tooth_disease_type_4|not_provided. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.