A: The variant NC_000022.11:g.41173740G>T in gene EP300 is classified as 'Uncertain_significance' for Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783. Review status: criteria provided, single submitter.