A: The variant NC_000020.11:g.2465705dup in gene SNRPB is classified as 'Likely_pathogenic' for Cerebro-costo-mandibular_syndrome. Molecular consequence: SO:0001627: intron_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0007301,MedGen:C0265342,OMIM:117650,Orphanet:1393. Review status: criteria provided, single submitter.