ClinVar Miner

Variants studied for connective and soft tissue neoplasm

Included ClinVar conditions (48):
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 risk factor other not provided total
214 71 1545 858 153 1 4 48 2877

Gene and significance breakdown #

Total genes and gene combinations: 51
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
SMARCA4 58 23 1273 809 70 0 0 0 2230
ANTXR2 14 7 103 15 29 0 0 0 167
TSC2 17 4 40 1 1 0 0 39 98
PDGFRB 15 1 22 25 33 0 0 1 94
SMARCB1 15 3 42 7 15 0 0 0 82
APC 19 1 25 0 1 0 0 1 47
TSC1 10 1 8 0 0 0 0 6 24
NSDHL 12 4 0 0 1 0 0 0 17
TP53 11 1 1 0 0 0 0 0 13
FGFR1 3 3 6 0 0 0 0 0 10
NF1 8 1 1 0 0 0 0 0 10
NOTCH3 3 4 3 0 0 0 0 1 10
BRCA2 6 0 2 0 0 0 0 0 8
CTNNB1 1 4 0 0 0 0 0 0 5
ELMO2 3 1 1 0 1 0 0 0 5
ALK 1 1 2 0 0 0 0 0 4
PDGFB 1 0 1 1 2 0 0 0 4
BRCA1 2 0 1 0 0 0 0 0 3
FGFR4 0 3 0 0 0 0 0 0 3
PTCH1 0 1 2 0 0 0 0 0 3
CBL 1 1 0 0 0 0 0 0 2
DERL3, SMARCB1 0 0 2 0 0 0 0 0 2
DICER1 2 0 0 0 0 0 0 0 2
HRAS, LRRC56 2 0 0 0 0 0 0 0 2
KRAS 0 2 0 0 0 0 0 0 2
PAX3 0 0 2 0 0 0 0 0 2
PAX7 0 1 1 0 0 0 0 0 2
PCSK7 0 0 2 0 0 0 0 0 2
SDHA 2 0 0 0 0 0 0 0 2
ATRX 1 0 0 0 0 0 0 0 1
BCAN, BGLAP, CCT3, CRABP2, GLMP, GPATCH4, HAPLN2, HDGF, INSRR, IQGAP3, ISG20L2, LMNA, MEF2D, METTL25B, MIR9-1, MIR9-1HG, MRPL24, NAXE, NES, NTRK1, PAQR6, PMF1, PMF1-BGLAP, PRCC, RHBG, SEMA4A, SH2D2A, SLC25A44, SMG5, TMEM79, TSACC, TTC24, VHLL 1 0 0 0 0 0 0 0 1
BMPR1A 0 0 1 0 0 0 0 0 1
CHEK2 1 0 0 0 0 0 0 0 1
ERCC2 0 1 0 0 0 0 0 0 1
GLI2 0 0 1 0 0 0 0 0 1
GNA14 0 1 0 0 0 0 0 0 1
IL6 0 0 0 0 0 1 0 0 1
MED12 0 0 0 0 0 0 1 0 1
MET, RBPMS 0 0 0 0 0 0 1 0 1
MSH2 1 0 0 0 0 0 0 0 1
MSH6 1 0 0 0 0 0 0 0 1
MXI1 1 0 0 0 0 0 0 0 1
NPIPB2, TNFRSF17 0 0 0 0 0 0 1 0 1
PHOX2B 0 0 1 0 0 0 0 0 1
PMS2 1 0 0 0 0 0 0 0 1
PTEN 1 0 0 0 0 0 0 0 1
PTPN11 0 0 0 0 0 0 1 0 1
RECQL4 0 1 0 0 0 0 0 0 1
SDHC 0 1 0 0 0 0 0 0 1
STK11 0 0 1 0 0 0 0 0 1
SUFU 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Invitae 60 22 1314 834 103 0 0 0 2333
Illumina Clinical Services Laboratory,Illumina 0 1 120 18 44 0 0 0 183
Fulgent Genetics,Fulgent Genetics 17 7 67 0 1 0 0 0 92
OMIM 42 0 0 0 0 1 0 0 43
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 36 6 0 0 0 0 0 0 42
Tuberous sclerosis database (TSC2) 0 0 0 0 0 0 0 39 39
Centre for Mendelian Genomics,University Medical Centre Ljubljana 14 1 17 1 1 0 0 0 34
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 2 2 18 0 0 0 0 0 22
Baylor Genetics 8 2 11 0 0 0 0 0 21
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 6 3 12 0 0 0 0 0 21
Demoulin lab,University of Louvain 13 0 0 0 0 0 0 0 13
Genetic Services Laboratory, University of Chicago 7 3 0 0 0 0 0 0 10
Mendelics 0 0 2 5 3 0 0 0 10
Database of Curated Mutations (DoCM) 1 9 0 0 0 0 0 0 10
Tuberous sclerosis database (TSC1) 0 0 0 0 0 0 0 6 6
GeneReviews 5 0 0 0 0 0 0 0 5
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 3 0 4
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 3 1 0 0 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 3 0 0 0 0 0 3
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 1 1 1 0 0 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 0 2 0 0 0 3
Center for Applied Genomics,Children's Hospital of Philadelphia 0 0 0 0 0 0 0 2 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 0 0 2
Tampere Brain Tumor Research Consortium,University of Tampere 2 0 0 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 0 0 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 2 0 0 0 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 1 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 0 0 1
Dobyns Lab,Seattle Children's Research Institute 1 0 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 0 0 1
Genome Sciences Centre,British Columbia Cancer Agency 1 0 0 0 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 0 0 1
Hunter Genetics General Clinical Genetics Service,Hunter Genetics 1 0 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 1 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Clinical Genetics Department,Hospital Sant Joan de Deu 1 0 0 0 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 0 0 0 0 0 1
Cancer Genomics Laboratory, Texas Children's Hospital 1 0 0 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 0 0 1 0 1
Michigan Center for Translational Pathology,University of Michigan 1 0 0 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 0 0 1

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