ClinVar Miner

Variants studied for benign connective and soft tissue neoplasm

Included ClinVar conditions (20):
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
41 23 166 233 85 15 549

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PDGFRB 17 1 87 178 79 1 358
FGFR1 4 7 43 26 2 2 80
NOTCH3 7 5 17 20 2 3 52
NSDHL 10 5 7 9 2 4 34
KRAS 1 0 0 0 0 5 6
CTNNB1, LOC126806658 0 4 0 0 0 0 4
TSC1 0 0 3 0 0 0 3
MFN2 1 0 1 0 0 0 2
PCSK7 0 0 2 0 0 0 2
APC 1 0 0 0 0 0 1
ERCC2 0 1 0 0 0 0 1
GLI2 0 0 1 0 0 0 1
LOC130002133, PTCH1 0 0 1 0 0 0 1
LOC130063807, NOTCH3 0 0 1 0 0 0 1
NF1 0 0 1 0 0 0 1
PTCH1 0 0 1 0 0 0 1
SUFU 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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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 7 9 61 54 4 0 135
Demoulin lab, University of Louvain 13 0 0 0 0 0 13
OMIM 12 0 0 0 0 0 12
GeneReviews 0 0 0 0 0 11 11
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 1 6 0 0 0 8
Genetic Services Laboratory, University of Chicago 4 3 0 0 0 0 7
Baylor Genetics 0 1 5 0 0 0 6
Database of Curated Mutations (DoCM) 0 4 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 3 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 3 0 0 0 4
Mendelics 0 0 0 1 1 0 2
Center for Applied Genomics, Children's Hospital of Philadelphia 0 0 0 0 0 2 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 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
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
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
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Genomics For Life 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Coban-Akdemir Lab, University of Texas Health Science Center 0 0 1 0 0 0 1

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