A: The variant NC_000022.11:g.37983485_37983486insT in gene SOX10 is classified as 'Pathogenic' for Waardenburg_syndrome_type_1. Molecular consequence: SO:0001589: frameshift_variant,SO:0001627: intron_variant. Variant type: Insertion. Disease database links: MONDO:MONDO:0008670,MedGen:C1847800,OMIM:193500,Orphanet:894. Review status: no assertion criteria provided.