A: The variant NC_000022.11:g.19964259_19964260insT in gene COMT is classified as 'Pathogenic' for Bardet-Biedl_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Insertion. Disease database links: MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110. Review status: criteria provided, single submitter.