ClinVar Miner

Variants studied for hematopoietic and lymphoid cell neoplasm

Included ClinVar conditions (115):
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
563 694 1714 801 173 3 4 27 3888

Gene and significance breakdown #

Total genes and gene combinations: 201
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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 94 495 84 1 0 0 0 806
MPL 99 29 96 344 15 0 0 0 575
TP53 21 139 11 0 7 0 0 0 174
RUNX1 7 13 91 7 10 0 0 0 125
KIT 9 9 60 14 33 0 0 3 123
PTPN11 42 16 29 18 14 0 0 0 114
GATA2 1 3 80 1 0 0 0 0 85
NBN 8 11 39 10 20 0 0 2 85
CBL 5 7 43 5 15 0 0 0 70
TERT 1 2 19 17 14 0 0 0 52
CEBPA, LOC130064183 0 0 32 11 0 0 0 0 43
FLT3 13 28 0 0 0 0 0 1 41
ABL1 3 26 0 5 0 1 0 1 34
PRF1 2 2 13 1 9 0 0 0 27
KRAS 9 9 5 6 0 0 0 0 26
NPM1 8 4 12 2 0 0 0 0 26
BRAF 3 25 0 0 0 0 0 0 25
DNMT3A 10 9 2 0 1 0 0 0 20
IKZF1 1 6 11 0 0 2 0 0 20
PDGFRB 2 0 1 2 13 0 0 0 18
SF3B1 2 18 0 0 0 0 0 0 18
NRAS 5 15 0 0 0 0 0 0 15
PAX5 1 13 2 0 0 0 0 0 15
INSL6, JAK2 6 4 3 1 1 0 0 2 14
LIG4 2 0 12 0 0 0 0 0 14
HRAS, LRRC56 0 13 0 0 0 0 0 0 13
BCL10 11 0 1 0 0 0 0 0 12
GATA1 11 0 0 0 0 0 0 0 11
FBXW7 0 10 0 0 0 0 0 0 10
IDH1 6 5 2 0 0 0 0 0 8
IDH2 6 5 0 0 0 0 0 0 8
MYC 4 3 1 0 0 0 0 0 8
SH2B3 1 2 3 1 1 0 0 0 8
BCR 0 0 4 1 0 0 0 2 7
EZH2 0 7 0 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
PTEN 5 2 0 0 0 0 0 0 7
TCF3 0 4 3 0 0 0 0 0 7
TET2 1 2 4 0 0 0 0 0 7
ATM 5 1 0 0 0 0 0 0 6
B2M 1 5 0 0 0 0 0 0 6
CASP10 3 0 3 0 0 0 0 0 6
CSF1R 0 6 0 0 0 0 0 0 6
DDX41 4 2 0 0 0 0 0 0 6
FGFR3 3 3 1 0 0 0 0 0 6
GNB1 2 2 0 2 0 0 0 0 6
HAVCR2 1 1 3 0 1 0 3 0 6
PIK3CA 0 6 0 0 0 0 0 0 6
RHOA 0 6 0 0 0 0 0 0 6
CBL, LOC130006895 0 0 1 3 1 0 0 0 5
ERG 0 0 5 0 0 0 0 0 5
ATM, C11orf65 4 0 0 0 0 0 0 0 4
CDK4 0 4 0 0 0 0 0 0 4
CDKN2A 0 2 2 0 0 0 0 0 4
ETV6 2 1 0 0 0 0 0 1 4
ITPKB 1 2 1 0 0 0 0 0 4
MIR181A1HG 4 0 0 0 0 0 0 0 4
RAD54L 1 1 1 1 0 0 0 0 4
U2AF1 0 4 0 0 0 0 0 0 4
​intergenic 3 0 0 0 0 0 0 0 3
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
JAK1, LOC126805749 0 3 0 0 0 0 0 0 3
KMT2D 0 3 0 0 0 0 0 0 3
LOC110806263, TERT 0 0 3 0 0 0 0 0 3
LOC126860438, NBN 1 0 0 1 2 0 0 0 3
NOTCH1 3 0 0 0 0 0 0 0 3
PDGFRA 1 2 0 0 0 0 0 0 3
PLCG2 0 3 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
XPO1 0 3 0 0 0 0 0 0 3
BAX 2 0 0 0 0 0 0 0 2
BRCA2 1 1 0 0 0 0 0 0 2
BTK 1 0 0 0 0 0 0 1 2
CBFA2T3 2 0 0 0 0 0 0 0 2
CBL, FRA11B, LOC130006894 0 0 2 0 0 0 0 0 2
CREBBP 1 1 0 0 0 0 0 0 2
CSF3R 1 2 0 0 0 0 0 0 2
CTCF 0 2 0 0 0 0 0 0 2
FAT1 0 2 0 0 0 0 0 0 2
FGFR1 0 2 0 0 0 0 0 0 2
IL7R 0 2 0 0 0 0 0 0 2
ITPKB, LOC129932672 0 1 0 1 0 0 0 0 2
KMT2C 0 2 0 0 0 0 0 0 2
LOC105376032, PAX5 0 1 1 0 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
MAP2K1 0 2 0 0 0 0 0 0 2
MFSD11, SRSF2 1 1 0 0 0 0 0 0 2
PMS2 2 0 0 0 0 0 0 0 2
SETBP1 0 1 0 0 0 0 0 1 2
SETD2 0 2 0 0 0 0 0 0 2
SF3B2 0 2 0 0 0 0 0 0 2
TBL1XR1 0 2 0 0 0 0 0 0 2
ACP3 0 0 1 0 0 0 0 0 1
ARID4A 0 1 0 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
AURKA 0 1 0 0 0 0 0 0 1
BAP1 0 1 0 0 0 0 0 0 1
BARD1 0 1 0 0 0 0 0 0 1
BCOR 1 0 0 0 0 0 0 0 1
BCORL1 0 1 0 0 0 0 0 0 1
BCR, FGFR1 1 0 0 0 0 0 0 0 1
BCR, LOC107963955 0 0 0 0 0 0 0 1 1
BRCA1 0 0 1 0 0 0 0 0 1
CBFB 0 0 1 0 0 0 0 0 1
CD79B, GH-LCR 0 1 0 0 0 0 0 0 1
CDKN2B, LOC130001608 0 0 1 0 0 0 0 0 1
CDKN2C 0 1 0 0 0 0 0 0 1
CEBPA, GPATCH1, LRP3, RHPN2, SLC7A10, WDR88 0 0 1 0 0 0 0 0 1
CHEK2 0 1 0 0 0 0 0 0 1
CORO7, CORO7-PAM16 0 0 1 0 0 0 0 0 1
CRBN, TRNT1 0 1 0 0 0 0 0 0 1
CRLF2 1 0 0 0 0 0 0 0 1
CUX1 0 0 1 0 0 0 0 0 1
CYLD 0 1 0 0 0 0 0 0 1
DIS3 0 1 0 0 0 0 0 0 1
DNAJC21 1 0 0 0 0 0 0 0 1
EIF1AX 0 1 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
ERCC4 1 0 0 0 0 0 0 0 1
ERF 0 1 0 0 0 0 0 0 1
ETV6, FLT3 0 1 0 0 0 0 0 0 1
ETV6, LOC126861451 1 0 0 0 0 0 0 0 1
ETV6, LOC126861452 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
FGFR4 0 0 0 1 0 0 0 0 1
FLT3, MYO18A 0 1 0 0 0 0 0 0 1
FLT3, TRIP11 1 0 0 0 0 0 0 0 1
FOXO1 1 0 0 0 0 0 0 0 1
H1-4 0 1 0 0 0 0 0 0 1
H2AC16 0 1 0 0 0 0 0 0 1
H2AC17 0 1 0 0 0 0 0 0 1
H3C1 0 1 0 0 0 0 0 0 1
HDAC4 0 1 0 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
JAK2, ZBTB20 0 1 0 0 0 0 0 0 1
KDM5A, NUP98 1 0 0 0 0 0 0 0 1
KDM5C, LOC130068308 0 1 0 0 0 0 0 0 1
KLHDC8B 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
LATS1 0 1 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
LOC107982234, WT1 0 1 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
LOC130063979, PIK3R2 0 1 0 0 0 0 0 0 1
LRRC41, RAD54L 0 0 1 0 0 0 0 0 1
MDGA1 0 0 1 0 0 0 0 0 1
MET 0 0 1 0 0 0 0 0 1
MGA 0 1 0 0 0 0 0 0 1
MLLT10 0 0 1 0 0 0 0 0 1
MST1R 0 1 0 0 0 0 0 0 1
MT-ND6 0 0 1 0 0 0 0 0 1
MYD88 1 1 0 0 0 0 0 0 1
NCOR2 0 1 0 0 0 0 0 0 1
NKX2-1, SFTA3 0 1 0 0 0 0 0 0 1
NSD2 0 0 1 0 0 0 0 0 1
NT5C2 0 0 0 0 0 0 0 1 1
NUP214 0 0 1 0 0 0 0 0 1
P2RY8 0 1 0 0 0 0 0 0 1
PALB2 1 0 0 0 0 0 0 0 1
PCF11 0 0 1 0 0 0 0 0 1
PIK3R2 0 1 0 0 0 0 0 0 1
RAD21 0 1 0 0 0 0 0 0 1
RAD54B 1 0 0 0 0 0 0 0 1
RASAL3 0 0 1 0 0 0 0 0 1
RECQL4 0 1 0 0 0 0 0 0 1
RTEL1, RTEL1-TNFRSF6B 1 0 0 0 0 0 0 0 1
RXRA 0 1 0 0 0 0 0 0 1
SAMHD1 0 1 0 0 0 0 0 0 1
SDHA 0 0 1 0 0 0 0 0 1
SF3A1 1 0 0 0 0 0 0 0 1
SGK1 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
SOCS1 1 0 0 0 0 0 0 0 1
SOX3 0 0 1 0 0 0 0 0 1
STAT3 1 0 0 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
TET3 0 1 0 0 0 0 0 0 1
TGM6 1 0 0 0 0 0 0 0 1
TRAF5 0 1 0 0 0 0 0 0 1
TSC1 0 0 1 0 0 0 0 0 1
YAP1 0 1 0 0 0 0 0 0 1
ZCCHC8 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 91
Download table as spreadsheet
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 72 615 2 0 0 0 0 783
Fulgent Genetics, Fulgent Genetics 81 33 336 147 12 0 0 0 609
Database of Curated Mutations (DoCM) 35 389 0 0 0 0 0 6 418
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 20 95 1 0 0 117
OMIM 100 0 0 0 0 0 4 0 104
Illumina Laboratory Services, Illumina 0 0 43 11 33 0 0 0 87
Juno Genomics, Hangzhou Juno Genomics, Inc 33 18 7 0 0 0 0 0 58
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 1 55 2 0 0 0 0 0 58
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 20 2 24 4 1 0 0 0 51
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 7 30 13 0 0 0 0 0 50
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 6 3 22 1 0 0 0 0 32
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
Department Of Pathology & Laboratory Medicine, University Of Pennsylvania 12 2 0 0 0 0 0 0 14
Mendelics 6 2 2 1 0 0 0 0 11
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
Molecular Diagnostics Laboratory, University of Rochester Medical Center 5 1 3 0 0 0 0 0 9
Wasik Lab, Fox Chase Cancer Center 3 5 1 0 0 0 0 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 5 0 0 0 0 0 8
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
Revvity Omics, Revvity 0 0 6 0 0 0 0 0 6
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
Hematological Lab, University of Education 6 0 0 0 0 0 0 0 6
Genetic Services Laboratory, University of Chicago 3 2 0 0 0 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 1 2 1 1 0 0 0 0 5
University Health Network, Princess Margaret Cancer Centre 5 0 0 0 0 0 0 0 5
Molecular Genetics Lab, CHRU Brest 2 3 0 0 0 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 5 5
Pathology Department, Puerta del Mar University Hospital 0 0 4 1 0 0 0 0 5
Institute of Laboratory Medicine, Hospital Wels-Grieskirchen 4 0 1 0 0 0 0 0 5
Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory, Brigham and Women's Hospital 4 0 0 0 0 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 3 0 0 0 0 0 0 4
3billion 0 2 1 1 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
Mayo Clinic Laboratories, Mayo Clinic 2 0 1 0 0 0 0 0 3
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
GenomeConnect, ClinGen 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
Knight Cancer Institute, Oregon Health and Science University 1 2 0 0 0 0 0 0 3
Mayo Clinic Genomics Laboratory, Mayo Clinic 3 0 0 0 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 2 0 1 0 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 1 0 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 0 0 2
Diagnostic Molecular Genetics Laboratory, Memorial Sloan Kettering Cancer Center 2 0 0 0 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 1 0 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 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
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 1 0 0 0 0 0 2
Molecular Haematology Laboratory, NSW Health Pathology 2 0 0 0 0 0 0 0 2
Laboratorios de Investigación en Biología Molecular e Inmunología, Universidad Autónoma de Nayarit 0 0 0 0 0 2 0 0 2
Godley laboratory, The University of Chicago 2 0 0 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 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
Biotechnology, Institute of Science, Nirma University 1 1 0 0 0 0 0 0 2
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 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
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
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 0 0 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 0 0 1 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
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 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
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
Suma Genomics 0 1 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 0 1
Dr. Afia Zoology Lab, University of Education 0 0 0 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 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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