ClinVar Miner

Variants studied for agranulocytosis

Included ClinVar conditions (26):
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
268 333 832 345 197 5 1835

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
VPS13B 55 274 247 84 53 4 640
SLC37A4 22 33 203 132 8 0 393
LYST 44 3 216 60 32 0 319
TAZ 19 11 16 16 4 0 61
GFI1 2 0 20 21 25 0 59
AP3B1 13 0 19 5 18 0 54
G6PC3 11 1 26 5 6 0 45
CSF3R 8 0 14 4 16 0 42
ELANE 15 5 14 3 9 0 42
HAX1 11 0 16 5 2 0 33
WAS 10 0 12 2 8 0 32
RAB27A 14 4 9 1 3 0 29
USB1 23 1 1 0 0 1 25
JAGN1 8 0 6 1 4 0 19
VPS45 2 0 8 1 6 0 17
CXCR4 4 0 2 2 2 0 10
DNASE1L1, TAZ 0 1 1 3 1 0 6
LOC110120801, MIR599, MIR875, VPS13B 2 0 0 0 0 0 2
ACADVL 0 0 1 0 0 0 1
LAMTOR2 1 0 0 0 0 0 1
LOC113783876, VPS13B 0 0 1 0 0 0 1
MIR599, MIR875, VPS13B 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-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: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 7 227 248 150 0 0 632
Invitae 50 8 270 103 165 0 596
Illumina Clinical Services Laboratory,Illumina 0 2 296 78 27 0 402
OMIM 116 0 0 0 0 0 116
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 4 3 30 1 0 0 38
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 26 0 0 0 28
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 5 8 0 0 0 0 13
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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 2 7 0 0 0 0 9
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 5 3 0 8
Baylor Miraca Genetics Laboratories, 3 0 3 0 0 0 6
Blood Cell Research,Sanquin 5 0 0 0 0 0 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 1 1 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 3 0 0 0 4
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 3 0 0 0 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 2 1 0 0 0 0 3
Johns Hopkins Genomics,Johns Hopkins University 0 0 0 1 2 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
Mendelics 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology,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
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
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1

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