A: The variant NC_000022.11:g.41179741_41179742del in gene EP300 is classified as 'Uncertain_significance' for Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations. Molecular consequence: SO:0001624: 3_prime_UTR_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783. Review status: criteria provided, single submitter.