Variants studied for Immunodeficiency, common variable, 1

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
15	6	79	54	21	168

Gene and significance breakdown #

Total genes and gene combinations: 6

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
ICOS	9	3	78	54	21	158
TNFRSF13B	2	2	0	0	0	4
ABI2, ALS2, BMPR2, C2CD6, CARF, CASP10, CASP8, CD28, CDK15, CFLAR, CTLA4, CYP20A1, FAM117B, FLACC1, FZD7, ICA1L, ICOS, MPP4, NBEAL1, NDUFB3, NOP58, RAPH1, STRADB, SUMO1, TMEM237, TRAK2, WDR12	1	0	1	0	0	2
CTLA4, ICOS	2	0	0	0	0	2
CTLA4	0	1	0	0	0	1
NFKB2	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	11	2	43	52	8	116
Illumina Laboratory Services, Illumina	0	0	35	2	15	52
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	1	0	0	2	3	6
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska"	2	2	0	0	0	4
Genome-Nilou Lab	0	0	0	0	3	3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	1	0	2
OMIM	1	0	0	0	0	1
Baylor Genetics	0	0	1	0	0	1
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	1	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	1

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