ClinVar Miner

Variants studied for central nervous system organ benign neoplasm

Included ClinVar conditions (13):
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 other not provided total
23 11 33 0 14 3 2 83

Gene and significance breakdown #

Total genes and gene combinations: 24
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign other not provided total
PDGFRB 9 1 11 14 0 1 34
TP53 7 1 4 0 0 0 12
NOTCH3 3 4 1 0 0 1 8
CTNNB1 0 4 0 0 0 0 4
TSC2 0 0 3 0 0 0 3
PTCH1 0 0 2 0 0 0 2
TSC1 0 0 2 0 0 0 2
VHL 2 0 0 0 0 0 2
APC 1 0 0 0 0 0 1
BMPR1A 0 0 1 0 0 0 1
BRCA1 0 0 1 0 0 0 1
CDH1 0 0 1 0 0 0 1
ERCC2 0 1 0 0 0 0 1
FOXO3 0 0 0 0 1 0 1
KRAS 0 0 1 0 0 0 1
LOC107303340, VHL 1 0 0 0 0 0 1
MSH6 0 0 1 0 0 0 1
NF1 0 0 1 0 0 0 1
NF2 0 0 0 0 1 0 1
NSD1 0 0 0 0 1 0 1
PHOX2B 0 0 1 0 0 0 1
PTPN11 0 0 1 0 0 0 1
SMARCA4 0 0 1 0 0 0 1
SUFU 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance benign other not provided total
Invitae 1 0 11 14 0 0 26
Clinical Genomics Lab,St. Jude Children's Research Hospital 1 1 17 0 0 0 19
Fulgent Genetics,Fulgent Genetics 7 5 5 0 0 0 17
OMIM 7 0 0 0 0 0 7
Demoulin lab,University of Louvain 7 0 0 0 0 0 7
Database of Curated Mutations (DoCM) 0 4 0 0 0 0 4
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 3 0 3
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
Dobyns Lab,Seattle Children's Research Institute 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 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

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