A: The variant NC_000023.11:g.13762420GAG[1] in gene OFD1 is classified as 'Uncertain_significance' for Simpson-Golabi-Behmel_syndrome_type_2|Joubert_syndrome|Orofaciodigital_syndrome_I. Molecular consequence: SO:0001822: inframe_deletion. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0010265,MedGen:C1846175,OMIM:300209,Orphanet:79022|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MONDO:MONDO:0010702,MedGen:C1510460,OMIM:311200,Orphanet:2750. Review status: criteria provided, multiple submitters, no conflicts.