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
72 57 829 423 50 1 3 13 1323

Condition and significance breakdown #

Total conditions: 36
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
Gastrointestinal stromal tumor 18 49 805 354 32 0 0 0 1228
Hereditary cancer-predisposing syndrome 0 0 70 64 12 0 0 0 146
Partial albinism 10 1 65 22 5 0 0 0 102
not provided 5 1 15 73 1 0 0 0 95
Mastocytosis 1 0 44 11 33 0 0 0 89
Melanoma 27 6 0 0 0 0 0 0 33
not specified 0 0 1 4 8 0 0 12 24
Gastrointestinal stromal tumor; Mastocytosis; Partial albinism; Malignant tumor of testis; Acute myeloid leukemia 0 0 11 0 0 0 0 0 11
Thymoma 9 0 0 0 0 0 0 0 9
Acute myeloid leukemia 3 2 0 0 0 0 0 0 5
Gastrointestinal stromal tumor, familial 3 0 2 0 0 0 0 0 5
Cutaneous mastocytosis 4 0 0 0 0 0 0 0 4
Hematologic neoplasm 0 4 0 0 0 0 0 0 4
Dysgerminoma 0 0 0 0 0 0 3 0 3
Adenocarcinoma of stomach 0 2 0 0 0 0 0 0 2
MASTOCYTOSIS, SYSTEMIC, SOMATIC 2 0 0 0 0 0 0 0 2
Malignant melanoma of skin 0 2 0 0 0 0 0 0 2
Mast cell disease, systemic 0 1 1 0 0 0 0 0 2
Squamous cell lung carcinoma 0 0 2 0 0 0 0 0 2
B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged 1 0 0 0 0 0 0 0 1
Chronic myelogenous leukemia, BCR-ABL1 positive 0 0 0 0 0 0 0 1 1
Germ cell tumor of testis 1 0 0 0 0 0 0 0 1
Hereditary breast and ovarian cancer syndrome 0 0 1 0 0 0 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
Mast cell leukemia 0 1 0 0 0 0 0 0 1
Myeloproliferative Neoplasm 0 1 0 0 0 0 0 0 1
Neoplasm 0 1 0 0 0 0 0 0 1
Non-small cell lung cancer 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
See cases 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
Invitae 13 13 760 372 26 0 0 0 1184
Ambry Genetics 0 0 70 64 12 0 0 0 146
Illumina Clinical Services Laboratory,Illumina 0 0 62 37 33 0 0 0 89
Database of Curated Mutations (DoCM) 36 35 0 0 0 0 0 2 54
OMIM 27 0 0 0 0 0 0 0 27
ITMI 0 0 0 0 0 0 0 12 12
PreventionGenetics, PreventionGenetics 0 0 0 3 8 0 0 0 11
Fulgent Genetics,Fulgent Genetics 0 0 11 0 0 0 0 0 11
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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 4 1 0 0 0 0 5
CSER _CC_NCGL, University of Washington 0 0 4 0 0 0 0 0 4
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 4 0 0 0 0 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 2 0 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 0 0 3
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 0 0 3 0 3
Genetic Services Laboratory, University of Chicago 0 0 1 1 0 0 0 0 2
GeneDx 1 1 0 0 0 0 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 1 0 0 0 0 0 2
Faculté Pluridciplinaire Nador,Université Mohamed Premier 0 0 2 0 0 0 0 0 2
Mendelics 0 0 1 0 0 0 0 0 1
Lineagen, Inc 0 0 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 0 1
ISCA site 1 1 0 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 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
QMC Molecular Diagnostics,Queen's Medical Center 0 1 0 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 0 0 1
Centre for Molecular Diagnostics & Cell Biology,Rajiv Gandhi Cancer Institute & Research Center 0 0 1 0 0 0 0 0 1
KK Women’s and Children’s Hospital 0 1 0 0 0 0 0 0 1
Kopetz Lab,MD Anderson Cancer Center 0 0 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 0 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 1 0 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
Institute of Medical Sciences, Banaras Hindu University 1 0 0 0 0 0 0 0 1
Molecular Oncology Research Center,Barretos Cancer Hospital 0 0 1 0 0 0 0 0 1

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