A: The variant NC_000022.11:g.41117455G>C in gene EP300 is classified as 'Uncertain_significance' for Rubinstein-Taybi_syndrome. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783. Review status: criteria provided, single submitter.