Variants from ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
83	68	151	45	40	387

Gene and significance breakdown #

Total genes and gene combinations: 10

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
DCLRE1C	11	10	56	6	7	90
ADA	10	12	27	2	2	53
FOXN1	11	16	8	11	3	49
IL2RG	20	6	9	6	1	42
RAG2	7	11	18	2	3	41
RAG1	7	2	17	3	9	38
IL7R	7	5	9	8	8	37
JAK3	6	3	7	6	6	28
IL2RG, LOC126863274	4	2	0	0	0	6
ADA, LOC107303343	0	1	0	1	1	3

Condition and significance breakdown #

Total conditions: 8

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Severe combined immunodeficiency due to DCLRE1C deficiency	11	10	56	6	7	90
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	10	13	27	3	3	56
T-cell immunodeficiency, congenital alopecia, and nail dystrophy	11	16	8	11	3	49
X-linked severe combined immunodeficiency	24	8	9	6	1	48
Recombinase activating gene 2 deficiency	7	11	18	2	3	41
Recombinase activating gene 1 deficiency	7	2	17	3	9	38
Immunodeficiency 104	7	5	9	8	8	37
T-B+ severe combined immunodeficiency due to JAK3 deficiency	6	3	7	6	6	28

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