A: The variant NC_000022.11:g.24322178_24322183del in gene SPECC1L is classified as 'Pathogenic' for Teebi_hypertelorism_syndrome. Molecular consequence: SO:0001619: non-coding_transcript_variant,SO:0001822: inframe_deletion. Variant type: Deletion. Disease database links: MONDO:MONDO:0030639,MedGen:C0796179,OMIM:PS145420,Orphanet:1519. Review status: no assertion criteria provided.