A: The variant NC_000023.11:g.13753451G>C in gene OFD1 is classified as 'Likely_benign' for Orofaciodigital_syndrome_I|Joubert_syndrome. Molecular consequence: SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010702,MedGen:C1510460,OMIM:311200,Orphanet:2750|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475. Review status: criteria provided, single submitter.