ClinVar Miner

Variants studied for benign soft tissue neoplasm

Included ClinVar conditions (10):
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
26 6 107 198 81 4 415

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PDGFRB 17 1 88 178 79 1 359
NOTCH3 9 5 17 20 2 3 54
LOC130063807, NOTCH3 0 0 1 0 0 0 1
TSC1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 3 0 86 177 79 0 345
Fulgent Genetics, Fulgent Genetics 6 4 16 19 2 0 47
Demoulin lab, University of Louvain 13 0 0 0 0 0 13
OMIM 3 0 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 2 0 0 0 0 0 2
Center for Applied Genomics, Children's Hospital of Philadelphia 0 0 0 0 0 2 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 1 1 0 0 2
GenomeConnect - CureCADASIL 0 0 0 0 0 2 2
Mendelics 0 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Dobyns Lab, Seattle Children's Research Institute 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Hunter Genetics General Clinical Genetics Service, Hunter Genetics 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1

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