Variants studied for Severe combined immunodeficiency disease

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	not provided	total
54	80	24	11	13	1	183

Gene and significance breakdown #

Total genes and gene combinations: 35

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
RAG1	15	6	5	4	1	0	31
JAK3	3	9	5	1	8	1	27
ADA	11	9	0	0	1	0	21
IL7R	4	7	2	2	0	0	15
DCLRE1C	4	4	0	0	2	0	10
DOCK8	2	6	0	0	0	0	8
AK2	1	6	0	0	0	0	7
RAG2	1	4	2	0	0	0	7
CD3E	0	1	3	2	0	0	6
PGM3	3	3	0	0	0	0	6
CD3D	1	0	2	1	0	0	4
MTHFD1	1	3	0	0	0	0	4
PNP	2	2	0	0	0	0	4
ZAP70	0	2	1	1	0	0	4
CD3G, LOC126861358	0	3	0	0	0	0	3
CD3G	0	2	0	0	0	0	2
DOP1A, PGM3	0	2	0	0	0	0	2
IKBKB	0	2	0	0	0	0	2
LIG4	2	0	0	0	0	0	2
MTHFD1, ZBTB25	0	2	0	0	0	0	2
STK4	0	2	0	0	0	0	2
ADA, LOC107303343	1	0	0	0	0	0	1
CAMK4	0	0	1	0	0	0	1
CD247	1	0	0	0	0	0	1
CD3D, CD3G	0	0	0	0	1	0	1
CORO1A	0	1	0	0	0	0	1
FOXN1	1	0	0	0	0	0	1
INPP5D	0	0	1	0	0	0	1
KDM2B	0	0	1	0	0	0	1
LCK	0	1	0	0	0	0	1
MALT1	0	1	0	0	0	0	1
MCFD2, TTC7A	0	1	0	0	0	0	1
PTPRC	0	1	0	0	0	0	1
TTC7A	1	0	0	0	0	0	1
VDAC2	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	53	78	4	5	8	0	148
Illumina Laboratory Services, Illumina	0	0	16	6	5	0	27
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust	0	0	3	0	0	0	3
Database of Curated Mutations (DoCM)	0	1	0	0	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	1	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Immunogenetics Laboratory, Johns Hopkins All Children's Hospital	1	0	0	0	0	0	1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	0	0	1	0	0	0	1

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