A: The variant NC_000019.10:g.17844309dup in gene JAK3 is classified as 'Pathogenic/Likely_pathogenic' for T-B+_severe_combined_immunodeficiency_due_to_JAK3_deficiency|Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802,Orphanet:35078|MONDO:MONDO:0007064,MedGen:C1863236,OMIM:102700,Orphanet:277. Review status: criteria provided, multiple submitters, no conflicts.