A: The variant NC_000023.11:g.13739034_13739037del in gene OFD1 is classified as 'Likely_pathogenic' for Orofaciodigital_syndrome_I|OFD1-related_disorder. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0010702,MedGen:C1510460,OMIM:311200,Orphanet:2750|.. Review status: criteria provided, single submitter.