ClinVar Miner

Variants studied for common variable immunodeficiency

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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 risk factor not provided total
87 28 750 154 141 1 1 1126

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
LRBA 25 10 333 56 58 0 0 475
CR2 3 1 135 32 17 0 0 186
NFKB2 5 2 63 23 16 0 0 107
TNFRSF13B 16 6 63 11 10 1 1 101
ICOS 2 2 51 7 19 0 0 77
CD19 6 1 36 4 3 0 0 49
TNFRSF13C 1 1 33 16 9 0 0 47
TNFSF12, TNFSF12-TNFSF13 0 0 28 5 4 0 0 37
NFKB1 10 3 0 0 0 0 0 13
IKZF1 8 2 0 0 1 0 0 11
IRF2BP2 1 0 1 0 2 0 0 4
MS4A1 1 0 2 0 1 0 0 4
CD81 1 0 1 0 1 0 0 3
LOC108281188, LRBA 1 0 2 0 0 0 0 3
LRBA, MAB21L2 2 0 0 0 0 0 0 2
RAG2 2 0 0 0 0 0 0 2
TTC7A 2 0 0 0 0 0 0 2
ACO2, CCDC134, CENPM, CSDC2, DESI1, LINC00634, LOC105373044, LOC108348030, LOC110740341, LOC111562373, LOC112695098, MEI1, MIR33A, MIR378I, NAGA, PHF5A, PMM1, POLR3H, RANGAP1, SEPTIN3, SHISA8, SNU13, SREBF2, TEF, TNFRSF13C, TOB2, WBP2NL, XRCC6, ZC3H7B 0 0 1 0 0 0 0 1
CD40LG 0 0 1 0 0 0 0 1
IL21 1 0 0 0 0 0 0 1
MANBA, NFKB1 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 34 13 643 141 115 0 0 946
Illumina Clinical Services Laboratory,Illumina 0 0 87 9 21 0 0 117
OMIM 40 0 0 0 0 0 0 40
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 2 4 7 14 0 0 28
NIHR Bioresource Rare Diseases, University of Cambridge 10 1 1 0 0 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 11 0 0 0 0 12
Mendelics 1 3 3 0 0 0 0 7
Integrated Genetics/Laboratory Corporation of America 1 1 1 1 1 0 0 5
Samuels research lab,Centre de Recherche du CHU Ste-Justine 4 0 0 0 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 2 0 0 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 3 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 0 3
Immunogenetics Laboratory,Johns Hopkins All Children's Hospital 1 2 0 0 0 0 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 1 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 2 0 0 0 0 0 2
Johns Hopkins Genomics,Johns Hopkins University 1 0 1 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 0 0 1 0 1
Genetech,Genetech Research Institute 0 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Department of Immunology,University Hospital Southampton NHSFT 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 0 1

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