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)

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
100	86	161	50	43	440

Gene and significance breakdown #

Total genes and gene combinations: 12

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
DCLRE1C	11	11	56	6	7	91
ADA	12	13	27	2	2	56
FOXN1	13	16	8	11	3	51
RAG1	15	4	17	4	9	49
IL2RG	21	7	9	8	1	46
RAG2	7	11	18	2	3	41
IL7R	7	5	9	8	8	37
JAK3	6	4	7	7	6	30
RMRP	4	11	9	1	3	28
IL2RG, LOC126863274	4	2	0	0	0	6
ADA, LOC107303343	0	1	1	1	1	4
ADA, PKIG	0	1	0	0	0	1

Condition and significance breakdown #

Total conditions: 10

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Severe combined immunodeficiency due to DCLRE1C deficiency	11	11	56	6	7	91
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	12	15	27	3	3	60
X-linked severe combined immunodeficiency	25	9	9	8	1	52
T-cell immunodeficiency, congenital alopecia, and nail dystrophy	13	16	8	11	3	51
Recombinase activating gene 1 deficiency	15	4	17	4	9	49
Recombinase activating gene 2 deficiency	7	11	18	2	3	41
Immunodeficiency 104	7	5	9	8	8	37
T-B+ severe combined immunodeficiency due to JAK3 deficiency	6	4	7	7	6	30
Metaphyseal chondrodysplasia, McKusick type	4	11	9	1	3	28
Severe combined immunodeficiency disease	0	0	1	0	0	1

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