A: The variant NC_000023.11:g.13760437CT[1] in gene OFD1 is classified as 'Pathogenic' for not_provided|Orofaciodigital_syndrome_I. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: MedGen:C3661900|MONDO:MONDO:0010702,MedGen:C1510460,OMIM:311200,Orphanet:2750. Review status: criteria provided, multiple submitters, no conflicts.