ClinVar Miner

Variants in gene KIT

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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 drug response other not provided total
107 65 1871 1556 121 2 3 40 3432

Condition and significance breakdown #

Total conditions: 59
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
Gastrointestinal stromal tumor 64 43 1520 1221 49 0 0 0 2864
Hereditary cancer-predisposing syndrome 5 4 916 741 39 0 0 0 1693
not provided 10 8 201 84 50 0 0 0 331
Piebaldism 15 6 66 24 5 0 0 0 115
KIT-related disorder 1 1 33 49 5 0 0 0 89
Mastocytosis 1 0 42 11 33 0 0 0 87
not specified 0 0 6 9 14 0 0 12 39
Gastrointestinal stromal tumor; Piebaldism; Acute myeloid leukemia; Cutaneous mastocytosis; Germ cell tumor of testis 0 0 34 3 0 0 0 0 37
Germinoma 15 0 0 0 0 0 0 0 15
Gastrointestinal stromal tumor; Mastocytosis; Piebaldism; Malignant tumor of testis; Acute myeloid leukemia 0 0 11 0 0 0 0 0 11
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 0 8 8
Ovarian cancer 0 2 0 0 6 0 0 0 8
Acute myeloid leukemia 1 0 0 0 0 0 0 4 5
Gastrointestinal stromal tumor, familial 3 0 2 0 0 0 0 0 5
Cutaneous mastocytosis 4 1 1 0 0 0 0 0 4
Germ cell tumor of testis 1 0 0 0 0 0 0 3 4
Squamous cell lung carcinoma 0 0 2 0 0 0 0 2 4
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 0 4 4
Dysgerminoma 0 0 0 0 0 0 3 0 3
Melanoma 0 0 0 0 0 0 0 3 3
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 0 3 3
Central nervous system germinoma 2 0 0 0 0 0 0 0 2
Familial cancer of breast 0 0 0 0 0 0 0 2 2
Gastrointestinal stromal tumor; Mastocytosis 0 0 0 0 0 0 0 2 2
Germinomatous germ cell tumor 1 1 0 0 0 0 0 0 2
Lung cancer 0 0 0 0 0 0 0 2 2
MASTOCYTOSIS, SYSTEMIC, SOMATIC 2 0 0 0 0 0 0 0 2
Malignant tumor of esophagus 0 0 0 0 0 0 0 2 2
Neoplasm 0 1 1 0 0 0 0 0 2
See cases 1 0 1 0 0 0 0 0 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 0 2 2
Autosomal dominant KIT-related disorders 1 0 0 0 0 0 0 0 1
B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged 1 0 0 0 0 0 0 0 1
Central nervous system germ cell tumor 1 0 0 0 0 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 0 0 1 1
Diffuse midline glioma, H3 K27M-mutant 0 1 0 0 0 0 0 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 0 0 1
Gastrointestinal stromal tumor; Mastocytosis; Piebaldism 0 0 0 0 0 0 0 1 1
Gastrointestinal stromal tumor; Piebaldism 0 0 0 0 0 0 0 1 1
Gastrointestinal stromal tumor; Piebaldism; Cutaneous mastocytosis 0 1 0 0 0 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 0 0 1 1
Hereditary breast ovarian cancer syndrome 0 0 1 0 0 0 0 0 1
Hereditary cancer 0 0 0 1 0 0 0 0 1
Hereditary skin disorder 0 0 1 0 0 0 0 0 1
IDH-wildtype glioblastoma 0 1 0 0 0 0 0 0 1
Imatinib response 0 0 0 0 0 1 0 0 1
Lip and oral cavity carcinoma 1 0 0 0 0 0 0 0 1
MAST CELL LEUKEMIA, SOMATIC 1 0 0 0 0 0 0 0 1
MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER, SOMATIC 1 0 0 0 0 0 0 0 1
MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC 1 0 0 0 0 0 0 0 1
Malignant tumor of testis 0 0 1 0 0 0 0 0 1
Mastocytosis; Piebaldism 0 0 0 0 0 0 0 1 1
Piebaldism with sensorineural deafness 1 0 0 0 0 0 0 0 1
Piebaldism, progressive 1 0 0 0 0 0 0 0 1
Regorafenib response 0 0 0 0 0 1 0 0 1
Sarcoma 0 0 0 0 0 0 0 1 1
Schizophrenia 0 0 1 0 0 0 0 0 1
Systemic mast cell disease 0 0 1 0 0 0 0 0 1
Uveal melanoma 0 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 89
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 58 23 1454 1204 40 0 0 0 2779
Ambry Genetics 5 4 907 739 35 0 0 0 1690
GeneDx 4 8 165 31 42 0 0 0 250
Baylor Genetics 0 0 158 0 0 0 0 0 158
PreventionGenetics, part of Exact Sciences 0 1 33 51 13 0 0 0 98
Illumina Laboratory Services, Illumina 0 0 60 37 33 0 0 0 87
CeGaT Center for Human Genetics Tuebingen 0 0 12 49 9 0 0 0 70
Fulgent Genetics, Fulgent Genetics 0 0 42 3 0 0 0 0 45
Breakthrough Genomics, Breakthrough Genomics 0 0 5 22 15 0 0 0 42
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 8 21 0 0 0 29
National Institute of Cancer Research, National Health Research Institutes 2 13 14 0 0 0 0 0 29
Sema4, Sema4 0 0 9 10 9 0 0 0 28
OMIM 27 0 0 0 0 0 0 0 27
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 0 24 24
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 20 3 0 0 0 0 0 0 23
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 18 0 0 0 0 0 19
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 7 4 0 0 0 17
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 16 0 0 0 0 0 16
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 6 6 0 0 0 15
Genetic Services Laboratory, University of Chicago 0 0 4 5 3 0 0 0 12
ITMI 0 0 0 0 0 0 0 12 12
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 9 0 1 0 0 0 10
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 8 0 0 0 0 0 0 8
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 2 0 0 6 0 0 0 8
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 3 3 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 1 0 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 5 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 2 0 0 0 5
Revvity Omics, Revvity 1 0 4 0 0 0 0 0 5
CSER _CC_NCGL, University of Washington 0 0 4 0 0 0 0 0 4
Clinical Genetics and Genomics, Karolinska University Hospital 4 0 0 0 0 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 1 0 1 0 0 0 4
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 2 2 0 0 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 2 0 0 0 0 0 3
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 0 0 0 0 3 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 0 0 3
Mendelics 0 0 2 1 0 0 0 0 3
3billion 1 0 1 0 0 0 0 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 1 0 0 0 0 0 2
Centre for Medical Genetics, Mumbai 0 0 0 2 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 2 0 0 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 0 0 0 2
Eurofins Ntd Llc (ga) 1 0 1 0 0 0 0 0 2
Faculté Pluridciplinaire Nador, Université Mohamed Premier 0 0 2 0 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 2 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 0 0 2
Molecular Pathology, Peter Maccallum Cancer Centre 0 0 2 0 0 0 0 0 2
Variantyx, Inc. 1 1 0 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 0 1
Cytogenomix Sdn. Bhd. 1 0 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 0 0 1
Dasa 0 0 1 0 0 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 0 0 1
Department of Dermatology, Sapporo Medical University School of Medicine 1 0 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 0 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 0 0 0 1 0 0 1
Genetics Department, Catlab 0 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 0 0 1
ISCA site 1 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 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
Institute of Medical Sciences, Banaras Hindu University 1 0 0 0 0 0 0 0 1
KK Women’s and Children’s Hospital 0 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 0 1
Kopetz Lab, MD Anderson Cancer Center 0 0 0 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 0 0 0 0 1 0 0 0 1
Molecular Diagnostics, Rajiv Gandhi Cancer Institute & Research Center 0 0 1 0 0 0 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 0 0 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 0 0 1
QMC Molecular Diagnostics, Queen's Medical Center 0 1 0 0 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 0 1
Suma Genomics 0 1 0 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 0 1

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