A: The variant NC_000019.10:g.45227673dup in gene EXOC3L2 is classified as 'Pathogenic/Likely_pathogenic' for Brain_malformation_renal_syndrome|Meckel-Gruber_syndrome. Variant type: Duplication. Disease database links: MONDO:MONDO:0975799,MedGen:C5975390,OMIM:620943|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564. Review status: no assertion criteria provided.