ClinVar Miner

Variants studied for Gastrointestinal stromal tumor

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
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 total
95 55 3350 2384 113 5937

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PDGFRA 7 2 1746 1234 63 3020
KIT 54 34 1450 1145 47 2703
SDHB 21 9 74 5 3 112
SDHC 4 6 42 0 0 51
SDHA 7 4 10 0 0 21
LOC129929542, SDHB 1 0 5 0 0 6
KIT, PDGFRA 0 0 5 0 0 5
LOC126807054, PDGFRA 0 0 5 0 0 5
MTRR 0 0 4 0 0 4
MTHFR 0 0 2 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 1
APC 0 0 1 0 0 1
DHFR, MSH3 0 0 1 0 0 1
FOLR1 0 0 1 0 0 1
MTR 0 0 1 0 0 1
SHMT1 0 0 1 0 0 1
SLC19A1 0 0 1 0 0 1
TYMS, TYMSOS 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 50 24 3064 2341 89 5568
Baylor Genetics 23 13 280 0 0 316
Illumina Laboratory Services, Illumina 0 0 138 45 41 224
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 8 16 24
“Giorgio Prodi” Cancer Research Center, University of Bologna 7 3 10 0 0 20
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 15 1 0 16
OMIM 14 0 0 0 0 14
Mendelics 1 1 4 5 1 12
Department of Pharmacy and Biotechnology, University of Bologna 0 0 12 0 0 12
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 8 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 1 0 1 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
QMC Molecular Diagnostics, Queen's Medical Center 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Molecular Diagnostics, Rajiv Gandhi Cancer Institute & Research Center 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 1
3DMed Clinical Laboratory Inc 0 0 1 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Department Of Pathology, Hubei Cancer Hospital 0 1 0 0 0 1

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