ClinVar Miner

Variants studied for bone marrow neoplasm

Included ClinVar conditions (63):
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 association risk factor not provided total
462 409 1561 774 108 1 1 21 3285

Gene and significance breakdown #

Total genes and gene combinations: 109
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
CEBPA 33 15 579 259 13 0 0 11 899
NF1 135 92 494 84 1 0 0 0 803
MPL 99 28 96 344 15 0 0 0 575
RUNX1 7 13 91 7 10 0 0 0 125
PTPN11 41 12 29 18 14 0 0 0 112
TP53 14 67 11 0 7 0 0 0 98
GATA2 1 3 80 1 0 0 0 0 85
CBL 5 5 42 5 15 0 0 0 68
TERT 1 2 19 17 14 0 0 0 52
CEBPA, LOC130064183 0 0 32 11 0 0 0 0 43
FLT3 12 27 0 0 0 0 0 1 39
ABL1 2 26 0 5 0 1 0 1 33
NPM1 8 4 12 2 0 0 0 0 26
KIT 3 3 14 3 0 0 0 1 24
KRAS 9 6 4 6 0 0 0 0 22
DNMT3A 8 8 2 0 1 0 0 0 18
PDGFRB 2 0 1 2 13 0 0 0 18
NRAS 5 15 0 0 0 0 0 0 15
HRAS, LRRC56 0 13 0 0 0 0 0 0 13
SF3B1 2 13 0 0 0 0 0 0 13
GATA1 11 0 0 0 0 0 0 0 11
INSL6, JAK2 2 4 3 1 1 0 0 2 11
IDH2 6 2 0 0 0 0 0 0 8
BCR 0 0 4 1 0 0 0 2 7
IDH1 6 0 1 0 0 0 0 0 7
JAK3 0 7 0 0 0 0 0 0 7
LOC111811965, MIR4733HG, NF1 1 0 5 1 0 0 0 0 7
NSD1 3 1 3 0 0 0 0 0 7
SH2B3 1 1 3 1 1 0 0 0 7
DDX41 4 2 0 0 0 0 0 0 6
TCF3 0 3 3 0 0 0 0 0 6
CBL, LOC130006895 0 0 1 3 1 0 0 0 5
ITPKB 1 2 1 0 0 0 0 0 4
MIR181A1HG 4 0 0 0 0 0 0 0 4
PTEN 2 2 0 0 0 0 0 0 4
U2AF1 0 4 0 0 0 0 0 0 4
ARHGAP26 3 0 0 0 0 0 0 0 3
ASXL1 2 0 1 0 0 0 0 0 3
CALR 2 0 1 0 0 0 0 0 3
LOC110806263, TERT 0 0 3 0 0 0 0 0 3
PDGFRA 1 2 0 0 0 0 0 0 3
SRC 1 1 2 0 0 0 0 0 3
WT1 0 1 2 0 0 0 0 0 3
CBFA2T3 2 0 0 0 0 0 0 0 2
CBL, FRA11B, LOC130006894 0 0 2 0 0 0 0 0 2
CSF3R 0 2 0 0 0 0 0 0 2
CTCF 0 2 0 0 0 0 0 0 2
ETV6 1 0 0 0 0 0 0 1 2
FGFR3 0 2 0 0 0 0 0 0 2
ITPKB, LOC129932672 0 1 0 1 0 0 0 0 2
LOC129934333, TMEM127 0 0 2 0 0 0 0 0 2
LPP 1 0 1 0 0 0 0 0 2
MFSD11, SRSF2 1 1 0 0 0 0 0 0 2
NOTCH1 2 0 0 0 0 0 0 0 2
SETD2 0 2 0 0 0 0 0 0 2
TET2 1 0 1 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 0 0 1
ACP3 0 0 1 0 0 0 0 0 1
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, LOC126862036, LOC126862037, LOC126862038, LOC129390666, LOC130056381, LOC130056382, LOC130056383, LOC130056384, LOC130056385, LOC130056386, LOC130056387, LOC130056388, LOC130056389, LOC130056390, LOC130056391, LOC130056392, LOC130056393, LOC130056394, LOC130056395, LOC130056396, LOC130056397, LOC132090293, LOC132090294, TCL1A, TUNAR 0 1 0 0 0 0 0 0 1
ATM 1 0 0 0 0 0 0 0 1
BCOR 1 0 0 0 0 0 0 0 1
BCR, LOC107963955 0 0 0 0 0 0 0 1 1
BRAF 0 1 0 0 0 0 0 0 1
CBFB 0 0 1 0 0 0 0 0 1
CEBPA, GPATCH1, LRP3, RHPN2, SLC7A10, WDR88 0 0 1 0 0 0 0 0 1
CORO7, CORO7-PAM16 0 0 1 0 0 0 0 0 1
CSF1R 0 1 0 0 0 0 0 0 1
CUX1 0 0 1 0 0 0 0 0 1
DNAJC21 1 0 0 0 0 0 0 0 1
EPOR 0 1 0 0 0 0 0 0 1
ERBB3 0 1 0 0 0 0 1 0 1
ETV6, FLT3 0 1 0 0 0 0 0 0 1
ETV6, LOC126861451 1 0 0 0 0 0 0 0 1
EVI2A, NF1 1 0 0 0 0 0 0 0 1
FANCD2, LOC107303338 1 0 0 0 0 0 0 0 1
FLT3, MYO18A 0 1 0 0 0 0 0 0 1
IKZF1 0 0 1 0 0 0 0 0 1
IL18BP, NUMA1 0 0 0 1 0 0 0 0 1
JAK1 0 1 0 0 0 0 0 0 1
JAK1, LOC126805749 0 1 0 0 0 0 0 0 1
KDM5A, NUP98 1 0 0 0 0 0 0 0 1
KLK2 1 0 0 0 1 0 0 0 1
KMT2A, MLLT6 1 0 0 0 0 0 0 0 1
KMT2A, SEPTIN9 1 0 0 0 0 0 0 0 1
LOC100128494, NUMA1 0 0 0 1 0 0 0 0 1
LOC100507346, PTCH1 0 0 1 0 0 0 0 0 1
LOC107303340, VHL 1 0 0 0 0 0 0 0 1
LOC126805969, MIR181A1HG 1 0 0 0 0 0 0 0 1
LOC126807054, PDGFRA 0 1 0 0 0 0 0 0 1
LOC126807619, NSD1 1 0 0 0 0 0 0 0 1
LOC130003020, NOTCH1 1 0 0 0 0 0 0 0 1
MDGA1 0 0 1 0 0 0 0 0 1
MLLT10 0 0 1 0 0 0 0 0 1
MT-ND6 0 0 1 0 0 0 0 0 1
NUP214 0 0 1 0 0 0 0 0 1
PCF11 0 0 1 0 0 0 0 0 1
RAD21 0 1 0 0 0 0 0 0 1
RASAL3 0 0 1 0 0 0 0 0 1
RTEL1, RTEL1-TNFRSF6B 1 0 0 0 0 0 0 0 1
SETBP1 0 0 0 0 0 0 0 1 1
SF3B2 0 1 0 0 0 0 0 0 1
SH3GL1 0 0 0 0 1 0 0 0 1
SLC9A2 0 0 1 0 0 0 0 0 1
SOX3 0 0 1 0 0 0 0 0 1
SUZ12 0 1 0 0 0 0 0 0 1
TEK 0 1 0 0 0 0 0 0 1
TGM6 1 0 0 0 0 0 0 0 1
TSC1 0 0 1 0 0 0 0 0 1
ZCCHC8 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 74
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 109 24 677 613 28 0 0 0 1451
Baylor Genetics 94 71 614 2 0 0 0 0 781
Fulgent Genetics, Fulgent Genetics 69 25 280 138 10 0 0 0 522
Database of Curated Mutations (DoCM) 30 206 0 0 0 0 0 4 239
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 16 64 1 0 0 82
Juno Genomics, Hangzhou Juno Genomics, Inc 33 16 7 0 0 0 0 0 56
OMIM 51 0 0 0 0 0 1 0 52
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 19 1 14 3 1 0 0 0 38
Nadeem Sheikh Lab, University of the Punjab 7 6 19 0 0 0 0 0 32
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 14 11 0 0 0 0 0 0 25
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 7 11 4 1 0 0 0 0 23
Ayesha Lab, University of the Punjab 0 6 11 0 6 0 0 0 23
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 15 1 0 0 0 0 0 0 16
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 1 12 1 0 0 0 0 15
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 6 8 1 0 0 0 0 0 15
GeneReviews 0 0 0 0 0 0 0 10 10
NIHR Bioresource Rare Diseases, University of Cambridge 4 7 0 0 0 0 0 0 10
McDonnell Genome Institute, Washington University in St. Louis 2 0 7 0 0 0 0 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 5 0 0 0 0 0 7
Johns Hopkins Genomics, Johns Hopkins University 0 1 6 0 0 0 0 0 7
Sung Lab, Department of Medicine, Roswell Park Comprehensive Cancer Center 7 0 0 0 0 0 0 0 7
Fujian Institute of Hematology, Fujian Medical University 6 0 0 0 0 0 0 0 6
Bone Marrow Failure laboratory, Queen Mary University London 2 4 0 0 0 0 0 0 6
Molecular Diagnostics Laboratory, University of Rochester Medical Center 5 1 0 0 0 0 0 0 6
Hematological Lab, University of Education 6 0 0 0 0 0 0 0 6
Mendelics 3 2 0 0 0 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 1 2 1 1 0 0 0 0 5
Institute of Laboratory Medicine, Hospital Wels-Grieskirchen 4 0 1 0 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 3 1 0 0 0 0 0 0 4
Revvity Omics, Revvity 0 0 4 0 0 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 3 0 0 0 0 0 0 4
Molecular Genetics Lab, CHRU Brest 2 2 0 0 0 0 0 0 4
Druker Lab, Oregon Health and Sciences University 3 0 1 0 0 0 0 0 4
Cancer Genetics Lab, University of Education 4 0 0 0 0 0 0 0 4
Laboratory of Molecular Diagnostics and Monitoring of CML and Ph+ Leukemias, Institute of Hematology and Blood Transfusion 0 0 0 0 0 0 0 3 3
Center for Personalized Medicine, Children's Hospital Los Angeles 2 0 1 0 0 0 0 0 3
3billion 0 2 0 1 0 0 0 0 3
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 1 0 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 1 0 0 0 0 0 2
Knight Cancer Institute, Oregon Health and Science University 0 2 0 0 0 0 0 0 2
Molecular Haematology Laboratory, NSW Health Pathology 2 0 0 0 0 0 0 0 2
Godley laboratory, The University of Chicago 2 0 0 0 0 0 0 0 2
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 1 1 0 0 0 0 0 2
Hematopathology, The University of Texas M.D. Anderson Cancer Center 2 0 0 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 2 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 0 1
INSERM UMR 1170, INSERM 0 1 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 0 0 1
Pediatric Leukemia/Lymphoma, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 0 0 1
Laboratory Oncology Unit, Dr.B.R.A. Institute Rotary Cancer Hospital, All India Institute of Medical Sciences 0 0 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 0 0 1
University Health Network, Princess Margaret Cancer Centre 1 0 0 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 0 0 1
Malcovati Lab, University of Pavia 0 0 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 0 0 1
Department of Zoology, Division of Science and Technology, University of Education 1 0 0 0 0 0 0 0 1
Dr. Afia Zoology Lab, University of Education 0 0 0 0 1 0 0 0 1
Shandong Key Laboratory of Immunohematology, Qilu Hospital, Shandong University 1 0 0 0 0 0 0 0 1
Eleanor M. Freitas Health Laboratory 0 0 0 0 1 0 0 0 1

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