A: The variant NC_000022.11:g.41149081G>A in gene EP300 is classified as 'Likely_benign' for Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency|EP300-related_disorder|Inborn_genetic_diseases. 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|.|MeSH:D030342,MedGen:C0950123. Review status: criteria provided, multiple submitters, no conflicts.