Variants studied for Immunodeficiency, common variable, 14

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
3	4	18	1	6	32

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
IRF2BP2	1	2	10	1	3	17
IRF2BP2, LOC129932812	1	2	4	0	3	10
IRF2BP2, LOC129932811	0	0	3	0	0	3
ARID4B, B3GALNT2, COA6, GGPS1, GNG4, IRF2BP2, KCNK1, LINC00184, LINC01132, LINC01348, LINC01354, LINC02768, LINC02961, LINC02971, LINC03108, LNCATV, LOC101927787, LOC105373209, LOC107546745, LOC107546746, LOC107546747, LOC107548103, LOC111365197, LOC111365208, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC122152345, LOC126264117, LOC126806052, LOC126806053, LOC126806054, LOC126806055, LOC126806056, LOC126806057, LOC126806058, LOC126806059, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC129388781, LOC129388782, LOC129388783, LOC129388784, LOC129388785, LOC129388786, LOC129869688, LOC129932784, LOC129932785, LOC129932786, LOC129932787, LOC129932788, LOC129932789, LOC129932790, LOC129932791, LOC129932792, LOC129932793, LOC129932794, LOC129932795, LOC129932796, LOC129932797, LOC129932798, LOC129932799, LOC129932800, LOC129932801, LOC129932802, LOC129932803, LOC129932804, LOC129932805, LOC129932806, LOC129932807, LOC129932808, LOC129932809, LOC129932810, LOC129932811, LOC129932812, LOC129932813, LOC129932814, LOC129932815, LOC129932816, LOC129932817, LOC129932818, LOC129932819, LOC129932820, LOC129932821, LOC129932822, LOC129932823, LOC129932824, LOC129932825, LOC129932826, LOC129932827, LOC129932828, LOC129932829, LOC129932830, LOC129932831, LOC129932832, LOC129932833, LOC129932834, LOC129932835, LOC129932836, LOC129932837, LOC129932838, LOC129932839, LOC129932840, LOC129932841, LOC129932842, LOC129932843, LOC129932844, LOC129932845, LOC129932846, LOC129932847, LOC129932848, LOC129932849, LOC129932850, LOC129932851, LOC129932852, LOC129932853, LOC129932854, LOC129932855, LOC129932856, LOC129932857, LOC129932858, LOC129932859, LOC129932860, LOC129932861, LOC129932862, LOC129932863, LOC129932864, LOC132088683, LOC132088684, LYST, MIR1537, MIR4427, MIR4671, MIR4753, NID1, RBM34, SLC35F3, SNORA14B, TARBP1, TBCE, TOMM20	1	0	0	0	0	1
IRF2BP2, LOC129932810	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	1	1	4	6
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	5	0	0	5
Healthincode, Healthincode group	2	2	0	0	0	4
Baylor Genetics	0	0	3	0	0	3
Neuberg Centre For Genomic Medicine, NCGM	0	0	3	0	0	3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	2	0	0	3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	2	0	0	2
Genome-Nilou Lab	0	0	0	0	2	2
OMIM	1	0	0	0	0	1
Revvity Omics, Revvity	0	0	1	0	0	1
Centogene AG - the Rare Disease Company	0	0	1	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	1	0	0	1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University	0	1	0	0	0	1

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