ClinVar Miner

Variants studied for Gastrointestinal stromal tumor

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
106 63 3514 2520 118 6255

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 8 1 1839 1291 62 3171
KIT 64 43 1520 1221 49 2864
SDHB 21 9 75 7 7 117
SDHC 4 6 42 0 0 51
SDHA 7 4 10 1 0 22
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: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 60 23 3234 2476 90 5883
Baylor Genetics 23 13 280 0 0 316
Illumina Laboratory Services, Illumina 0 0 130 43 39 212
National Institute of Cancer Research, National Health Research Institutes 4 13 14 0 0 31
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 8 21 29
“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 18 1 0 19
OMIM 14 0 0 0 0 14
Department of Pharmacy and Biotechnology, University of Bologna 0 0 12 0 0 12
Mendelics 1 1 4 5 1 12
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 3 4 9
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
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
3DMed Clinical Laboratory Inc 0 0 1 0 0 1
Department Of Pathology, Hubei Cancer Hospital 0 1 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
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
Molecular Diagnostics, Rajiv Gandhi Cancer Institute & Research Center 0 0 1 0 0 1
QMC Molecular Diagnostics, Queen's Medical Center 0 1 0 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

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