A: The variant NC_000022.11:g.24369232A>T in gene SPECC1L is classified as 'Likely_pathogenic' for Autosomal_dominant_Opitz_G/BBB_syndrome|Teebi_hypertelorism_syndrome. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN032444,Orphanet:2745|MONDO:MONDO:0030639,MedGen:C0796179,OMIM:PS145420,Orphanet:1519. Review status: criteria provided, single submitter.