A: The variant NC_000023.11:g.13751369G>T in gene OFD1 is classified as 'Likely_pathogenic' for Joubert_syndrome_10|Simpson-Golabi-Behmel_syndrome_type_2|Retinitis_pigmentosa_23|Orofaciodigital_syndrome_I. Molecular consequence: SO:0001575: splice_donor_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010431,MedGen:C2749019,OMIM:300804,Orphanet:2754|MONDO:MONDO:0010265,MedGen:C1846175,OMIM:300209,Orphanet:79022|MONDO:MONDO:0010320,MedGen:C1419610,OMIM:300424,Orphanet:791|MONDO:MONDO:0010702,MedGen:C1510460,OMIM:311200,Orphanet:2750. Review status: criteria provided, single submitter.