ClinVar Miner

Variants studied for esophageal squamous cell carcinoma

Included ClinVar conditions (5):
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
12 5 53 14 4 86

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TGFBR2 5 2 37 7 0 51
WWOX 3 1 11 2 2 18
TP53 4 0 0 1 0 5
DCC 0 0 0 3 1 4
BRCA2 0 0 2 0 0 2
MAF, WWOX 0 0 1 1 1 2
CTNNB1, LOC126806658 0 1 0 0 0 1
DLEC1 0 0 1 0 0 1
EGFR 0 1 0 0 0 1
LOC129936399, TGFBR2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 3 0 44 11 2 60
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 1 0 6
Mendelics 5 0 0 0 0 5
Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo 4 0 0 1 0 5
Database of Curated Mutations (DoCM) 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 2
OMIM 1 0 0 0 0 1
Baylor Genetics 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
3DMed Clinical Laboratory Inc 0 0 1 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 1

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