A: The variant NC_000022.11:g.41176401_41176406del in gene EP300 is classified as 'Uncertain_significance' for Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency|not_specified. Molecular consequence: SO:0001820: inframe_indel. Variant type: Deletion. Disease database links: MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783|MedGen:CN169374. Review status: criteria provided, multiple submitters, no conflicts.