ClinVar Miner

Variants studied for fibroblastic neoplasm

Included ClinVar conditions (16):
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 association other not provided total
33 10 74 12 5 28 1 1 162

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 association other not provided total
APC 28 4 68 11 3 0 0 1 115
MED12 0 0 0 0 0 28 0 0 28
PDGFB 1 0 1 1 2 0 0 0 4
CTNNB1, LOC126806658 1 2 0 0 0 0 0 0 2
​intergenic 0 0 1 0 0 0 0 0 1
ACTL6A 0 1 0 0 0 0 0 0 1
ADGRG2, MAP3K15, PDHA1, SH3KBP1 0 0 1 0 0 0 0 0 1
APC, LOC129994371 0 0 1 0 0 0 0 0 1
ARID1B 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
DLX3 0 1 0 0 0 0 0 0 1
FH 0 1 0 0 0 0 0 0 1
HMGA2 0 0 1 0 0 0 0 0 1
MET, RBPMS 0 0 0 0 0 0 1 0 1
PTCH1 0 0 1 0 0 0 0 0 1
SUFU 0 1 0 0 0 0 0 0 1
TP53 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association other not provided total
Fulgent Genetics, Fulgent Genetics 14 2 64 10 3 0 0 0 93
Rajkovic Lab, University of Pittsburgh 0 0 0 0 0 28 0 0 28
OMIM 7 0 0 0 0 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 4 2 0 0 0 0 0 0 6
Baylor Genetics 2 0 2 0 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 0 0 0 0 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 1 1 0 0 0 3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 1 0 0 0 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 0 0 0 1 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 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
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 0 0 1
Clinical Bioinformatic Lab, Royan Institute 0 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 0 0 1
Michigan Center for Translational Pathology, University of Michigan 1 0 0 0 0 0 0 0 1
3billion 0 0 0 1 0 0 0 0 1

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