A: The variant NC_000023.11:g.13746405_13746410del in gene OFD1 is classified as 'Uncertain_significance' for Simpson-Golabi-Behmel_syndrome_type_2|Orofaciodigital_syndrome_I|Joubert_syndrome_10. Molecular consequence: SO:0001822: inframe_deletion. Variant type: Deletion. Disease database links: MONDO:MONDO:0010265,MedGen:C1846175,OMIM:300209,Orphanet:79022|MONDO:MONDO:0010702,MedGen:C1510460,OMIM:311200,Orphanet:2750|MONDO:MONDO:0010431,MedGen:C2749019,OMIM:300804,Orphanet:2754. Review status: criteria provided, single submitter.