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
68 52 567 342 50 1 3 13 977

Condition and significance breakdown #

Total conditions: 33
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
Gastrointestinal stromal tumor 14 44 543 233 32 0 0 0 844
Hereditary cancer-predisposing syndrome 0 0 71 63 12 0 0 0 146
Partial albinism 10 1 62 22 4 0 0 0 99
Mastocytosis 1 0 44 11 33 0 0 0 89
not provided 2 1 13 72 1 0 0 0 89
Cutaneous 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
Piebaldism 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
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 1 0 0 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: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
Invitae 9 7 502 285 26 0 0 0 829
Ambry Genetics 0 0 71 63 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 0 8 0 0 0 0 0 0 8
CSER _CC_NCGL, University of Washington 0 0 4 0 0 0 0 0 4
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 0 0 3 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 1 0 0 0 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
Mendelics 0 0 1 0 0 0 0 0 1
Lineagen, Inc 0 0 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing 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 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
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

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