A: The variant NC_000022.11:g.17209540dup in gene ADA2 is classified as 'Pathogenic/Likely_pathogenic' for Vasculitis_due_to_ADA2_deficiency|Sneddon_syndrome|not_provided|Splenomegaly. Molecular consequence: SO:0001589: frameshift_variant,SO:0001627: intron_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0014306,MedGen:C3887654,OMIM:615688,Orphanet:404553|MONDO:MONDO:0008436,MedGen:C0282492,OMIM:182410,Orphanet:820|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001744,Human_Phenotype_Ontology:HP:0001745,Human_Phenotype_Ontology:HP:0006269,MedGen:C0038002. Review status: criteria provided, multiple submitters, no conflicts.