A: The variant NC_000022.11:g.37973543_37973550dup in gene SOX10 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Waardenburg_syndrome_type_2E|PCWH_syndrome|Waardenburg_syndrome_type_4C. Molecular consequence: SO:0001589: frameshift_variant,SO:0001627: intron_variant. Variant type: Duplication. Disease database links: MedGen:C3661900|MONDO:MONDO:0012698,MedGen:C2700405,OMIM:611584,Orphanet:3440|MONDO:MONDO:0012198,MedGen:C1836727,OMIM:609136,Orphanet:163746|MONDO:MONDO:0013202,MedGen:C2750452,OMIM:613266,Orphanet:897. Review status: criteria provided, multiple submitters, no conflicts.