ClinVar Miner

Variants studied for Gastrointestinal stromal tumor

Coded as:
Minimum submission review status: Collection method:
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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 not provided total
89 89 3144 2161 110 1 5522

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PDGFRA 9 9 1630 1108 61 1 2785
KIT 45 60 1360 1048 46 0 2521
SDHB 21 9 74 5 3 0 112
SDHC 4 6 42 0 0 0 51
SDHA 7 4 10 0 0 0 21
LOC129929542, SDHB 1 0 5 0 0 0 6
KIT, PDGFRA 0 0 5 0 0 0 5
LOC126807054, PDGFRA 0 0 5 0 0 0 5
MTRR 0 0 4 0 0 0 4
MTHFR 0 0 2 0 0 0 2
AASDH, ARL9, CEP135, CLOCK, CRACD, EXOC1, HOPX, KDR, KIT, NMU, PAICS, PDCL2, PDGFRA, PPAT, REST, SPINK2, SPMAP2L, SRD5A3, SRP72, TMEM165 1 0 0 0 0 0 1
APC 0 0 1 0 0 0 1
BRAF 1 0 0 0 0 0 1
DHFR, MSH3 0 0 1 0 0 0 1
FOLR1 0 0 1 0 0 0 1
KRAS 0 1 0 0 0 0 1
MTR 0 0 1 0 0 0 1
SHMT1 0 0 1 0 0 0 1
SLC19A1 0 0 1 0 0 0 1
TYMS, TYMSOS 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 41 24 2856 2117 86 0 5124
Baylor Genetics 23 13 280 0 0 0 316
Illumina Laboratory Services, Illumina 0 0 138 45 41 0 224
Database of Curated Mutations (DoCM) 5 37 0 0 0 1 43
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 8 16 0 24
“Giorgio Prodi” Cancer Research Center, University of Bologna 7 3 10 0 0 0 20
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 14 1 0 0 15
OMIM 14 0 0 0 0 0 14
Mendelics 1 1 4 5 1 0 12
Department of Pharmacy and Biotechnology, University of Bologna 0 0 12 0 0 0 12
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 8 0 0 0 0 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 1 0 0 0 3
Genome-Nilou Lab 0 0 0 0 2 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
QMC Molecular Diagnostics, Queen's Medical Center 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Molecular Diagnostics, Rajiv Gandhi Cancer Institute & Research Center 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 1
3DMed Clinical Laboratory Inc 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Department Of Pathology, Hubei Cancer Hospital 0 1 0 0 0 0 1

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