A: The variant NC_000020.11:g.51791063_51791069del in gene SALL4 is classified as 'Likely_pathogenic' for Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive. Molecular consequence: SO:0001589: frameshift_variant,SO:0001627: intron_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457,Orphanet:331206. Review status: criteria provided, single submitter.