A: The variant NC_000022.11:g.41125846_41125855del in gene EP300 is classified as 'Benign' for Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations|not_provided|not_specified|Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency. Molecular consequence: SO:0001627: intron_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783. Review status: criteria provided, multiple submitters, no conflicts.