ClinVar Miner

Variants studied for agranulocytosis

Included ClinVar conditions (30):
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 not provided total
337 362 1100 283 78 5 2065

Gene and significance breakdown #

Total genes and gene combinations: 28
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
VPS13B 82 288 311 60 21 4 707
SLC37A4 30 35 219 130 1 0 410
LYST 45 5 282 40 18 0 370
TAZ 23 12 25 11 2 0 70
GFI1 2 0 24 23 14 0 59
AP3B1 13 0 40 1 4 0 58
ELANE 15 6 36 1 2 0 56
G6PC3 14 1 34 4 3 0 55
CSF3R 10 2 30 1 4 0 47
HAX1 12 3 22 4 1 0 42
WAS 20 0 16 2 1 0 39
RAB27A 19 5 15 1 1 0 38
VPS45 2 0 22 1 2 0 27
USB1 23 2 1 0 0 1 26
JAGN1 8 0 10 0 2 0 20
CXCR4 4 1 7 1 1 0 14
DNASE1L1, TAZ 1 1 3 3 1 0 9
SRP54 6 0 0 0 0 0 6
LOC110120801, MIR599, MIR875, VPS13B 3 0 0 0 0 0 3
MIR599, MIR875, VPS13B 2 0 0 0 0 0 2
ACADVL 0 0 1 0 0 0 1
CXCR4, DARS, DARS1 0 0 1 0 0 0 1
HPS3 0 1 0 0 0 0 1
LAMTOR2 1 0 0 0 0 0 1
LOC113783876, VPS13B 0 0 1 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TK, MT-TL2, MT-TR, MT-TS2 1 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2 1 0 0 0 0 0 1
TCIRG1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 109 17 545 26 35 0 732
Counsyl 7 237 248 150 0 0 642
Illumina Clinical Services Laboratory,Illumina 0 2 296 78 27 0 402
OMIM 122 0 0 0 0 0 122
GeneReviews 81 0 0 0 0 0 81
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 77 0 0 0 0 77
Fulgent Genetics,Fulgent Genetics 4 3 30 1 0 0 38
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 34 0 0 0 36
Mendelics 9 2 5 10 4 0 30
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 7 15 0 23
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 11 11 0 23
Integrated Genetics/Laboratory Corporation of America 8 10 1 0 0 0 19
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 4 8 0 0 0 0 12
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 9 0 0 0 0 11
Genetic Services Laboratory, University of Chicago 10 0 0 0 0 0 10
Klein lab, Ludwig-Maximilians-University 10 0 0 0 0 0 10
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 5 3 0 8
Baylor Genetics 3 1 3 0 0 0 7
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 5 0 0 0 0 7
Institute of Human Genetics,Klinikum rechts der Isar 3 3 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 2 0 0 0 6
Blood Cell Research,Sanquin 5 0 0 0 0 0 5
NIHR Bioresource Rare Diseases, University of Cambridge 1 4 0 0 0 0 5
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 4 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Broad Institute Rare Disease Group,Broad Institute 1 1 2 0 0 0 4
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 3 0 0 0 4
Johns Hopkins Genomics,Johns Hopkins University 0 0 0 1 3 0 4
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 3 0 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 3
Athena Diagnostics Inc 0 0 0 0 2 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 2 0 0 0 0 0 2
Fan Lab,Zhengzhou University 0 2 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 2 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Blueprint Genetics 0 1 0 0 0 0 1
University of Washington School of Medicine 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics,University of Washington 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
Department of Immunology,University Hospital Southampton NHSFT 0 1 0 0 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 0 0 1 0 1

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