ClinVar Miner

Variants studied for benign connective and soft tissue 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 not provided total
30 16 33 0 14 2 90

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
PDGFRB 9 1 11 14 1 34
NSDHL 12 3 0 0 0 15
NOTCH3 3 4 1 0 1 8
FGFR1 2 3 2 0 0 5
CTNNB1 0 4 0 0 0 4
ELMO2 3 0 1 0 0 4
TSC1 0 0 3 0 0 3
TSC2 0 0 3 0 0 3
PTCH1 0 0 2 0 0 2
APC 1 0 0 0 0 1
BMPR1A 0 0 1 0 0 1
BRCA1 0 0 1 0 0 1
CDH1 0 0 1 0 0 1
ERCC2 0 1 0 0 0 1
KRAS 0 0 1 0 0 1
MSH6 0 0 1 0 0 1
NF1 0 0 1 0 0 1
PHOX2B 0 0 1 0 0 1
PTPN11 0 0 1 0 0 1
SMARCA4 0 0 1 0 0 1
SUFU 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
Invitae 1 0 11 14 0 26
Clinical Genomics Lab,St. Jude Children's Research Hospital 1 1 17 0 0 19
OMIM 14 0 0 0 0 14
Fulgent Genetics,Fulgent Genetics 2 5 2 0 0 9
Genetic Services Laboratory, University of Chicago 4 3 0 0 0 7
Demoulin lab,University of Louvain 7 0 0 0 0 7
GeneReviews 5 0 0 0 0 5
Database of Curated Mutations (DoCM) 0 4 0 0 0 4
Center for Applied Genomics,Children's Hospital of Philadelphia 0 0 0 0 2 2
University of Washington Center for Mendelian Genomics,University of Washington 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Dobyns Lab,Seattle Children's Research Institute 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Hunter Genetics General Clinical Genetics Service,Hunter Genetics 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 1

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