A: The variant NC_000022.11:g.37974182_37974189del in gene SOX10 is classified as 'Uncertain_significance' for Waardenburg_syndrome_type_2E. Molecular consequence: SO:0001589: frameshift_variant,SO:0001627: intron_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0012698,MedGen:C2700405,OMIM:611584,Orphanet:3440. Review status: no assertion criteria provided.