Table 2.

Number of non-unique variants identified by IUIS category.

IUIS category	P/LP positive	P/LP carrier	VUS	Total
Immunodeficiencies affecting cellular or humoral immunity (IUIS Table 1)	93	29	805	927
Combined immunodeficiencies associated with syndromic features (IUIS Table 2)	65	28	1231	1324
Antibody deficiencies (IUIS Table 3)	34	37	360	431
Disorders of immune dysregulation (IUIS Table 4)	66	26	787	879
Congenital defects of phagocyte number or function (IUIS Table 5)	45	28	598	671
Defects in Intrinsic and Innate Immunity (IUIS Table 6)	16	16	759	791
Autoinflammatory disorders (IUIS Table 7)	19	40	651	710
Complement deficiencies (IUIS Table 8)	12	21	266	299
Bone marrow failure (IUIS Table 9)	2	13	413	428
Multiple IUIS tables	23	0	124	147
Not in IUIS, but has overlapping symptoms	10	44	863	917
Total	385	282	6857	7524

The number of non-unique P/LP and VUS variants that were identified in patients tested in the Jeffrey’s Insights program. Variants were attributed to the different 2019 IUIS tables based on the gene that the variants were located in. P/LP variants were counted in the P/LP positive column if the variant was sufficient for a diagnosis (seen in a gene with autosomal dominant inheritance or X-linked inheritance in a male) or if it was seen with a second P/LP/VUS variant in a gene with autosomal recessive inheritance. P/LP variants were counted in the P/LP carrier column when a single P/LP variant and no other variant was identified in an autosomal recessive gene. IUIS, International Union of Immunological Societies; P/LP, pathogenic or likely pathogenic; VUS, variant of uncertain significance.