A: The variant NC_000022.11:g.24334486del in gene SPECC1L is classified as 'Uncertain_significance' for Autosomal_dominant_Opitz_G/BBB_syndrome. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Deletion. Disease database links: MedGen:CN032444,Orphanet:2745. Review status: criteria provided, single submitter.