A: The variant NC_000022.11:g.24322224A>C in gene SPECC1L is classified as 'Pathogenic' for Oculomaxillofacial_dysostosis. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0015824,MedGen:C1838348,OMIM:600251,Orphanet:141258,Orphanet:1794. Review status: no assertion criteria provided.