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
66 48 362 198 26 1 3 13 658

Condition and significance breakdown #

Total conditions: 32
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
Gastrointestinal stroma tumor 12 40 352 194 23 0 0 0 608
Partial albinism 10 1 20 12 0 0 0 0 43
Mastocytosis 1 0 21 12 0 0 0 0 34
Cutaneous melanoma 27 6 0 0 0 0 0 0 33
not specified 0 0 1 4 8 0 0 12 24
not provided 2 1 11 1 1 0 0 0 16
Gastrointestinal stroma 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 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: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
Invitae 7 3 333 180 23 0 0 0 546
Database of Curated Mutations (DoCM) 36 35 0 0 0 0 0 2 54
Illumina Clinical Services Laboratory,Illumina 0 0 20 13 0 0 0 0 33
OMIM 27 0 0 0 0 0 0 0 27
ITMI 0 0 0 0 0 0 0 12 12
PreventionGenetics 0 0 0 3 8 0 0 0 11
Fulgent Genetics 0 0 11 0 0 0 0 0 11
Biesecker Lab/Human Development 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 Medical Center 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
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
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
CeGaT Praxis fuer Humangenetik Tuebingen 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
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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