A: The variant NC_000019.10:g.46412727dup in gene CCDC8 is classified as 'Pathogenic' for 3M_syndrome_3. Molecular consequence: SO:0001587: nonsense. Variant type: Duplication. Disease database links: MONDO:MONDO:0013627,MedGen:C3280146,OMIM:614205,Orphanet:2616. Review status: no assertion criteria provided.