ClinVar Miner

Variants studied for Gastrointestinal stroma 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 not provided total
27 55 1003 155 18 1 1249

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PDGFRA 9 8 549 91 14 1 668
KIT 14 44 436 59 3 0 550
SDHB 2 2 4 5 1 0 14
MTRR 0 0 4 0 0 0 4
MTHFR 0 0 2 0 0 0 2
APC 0 0 1 0 0 0 1
BRAF 1 0 0 0 0 0 1
DHFR 0 0 1 0 0 0 1
FOLR1 0 0 1 0 0 0 1
KIT, PDGFRA 0 0 1 0 0 0 1
KRAS 0 1 0 0 0 0 1
MTR 0 0 1 0 0 0 1
SDHC 1 0 0 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: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 9 7 932 97 3 0 1048
Illumina Clinical Services Laboratory,Illumina 0 0 59 52 14 0 125
Database of Curated Mutations (DoCM) 5 37 0 0 0 1 43
OMIM 14 0 0 0 0 0 14
Mendelics 1 2 4 5 1 0 13
Department of Pharmacy and Biotechnology,University of Bologna 0 0 12 0 0 0 12
Department of Molecular Diagnostics,Institute of Oncology 0 8 0 0 0 0 8
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 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
Centre for Molecular Diagnostics & Cell Biology,Rajiv Gandhi Cancer Institute & Research Center 0 0 1 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

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