ClinVar Miner

Variants studied for benign neoplasm of skin

Included ClinVar conditions (32):
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
112 28 127 64 127 4 436

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
FH 43 12 46 17 18 2 119
PDGFRB 15 1 22 25 33 1 94
KRT4 3 0 24 15 42 0 83
KRT13 2 0 17 6 33 0 58
NSDHL 12 4 0 0 1 0 17
PIK3CA 6 2 3 0 0 0 11
FGFR1 3 3 6 0 0 0 10
FGFR3 7 0 3 0 0 0 10
NOTCH3 3 4 3 0 0 1 10
HRAS, LRRC56 7 0 0 1 0 0 8
NRAS 5 0 0 0 0 0 5
KRAS 2 1 1 0 0 0 4
NEK9 3 0 0 0 0 0 3
​intergenic 0 0 1 0 0 0 1
CHML, CHRM3, EXO1, FH, FMN2, GREM2, KMO, MAP1LC3C, OPN3, PLD5, RGS7, RYR2, WDR64, ZP4 1 0 0 0 0 0 1
COL7A1 0 1 0 0 0 0 1
PTCH1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 74 37 93 0 189
Invitae 1 0 22 24 33 0 80
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 36 8 10 0 0 0 54
OMIM 45 0 0 0 0 0 45
Fulgent Genetics,Fulgent Genetics 13 6 10 1 0 0 30
Demoulin lab,University of Louvain 13 0 0 0 0 0 13
GeneReviews 12 0 0 0 0 0 12
Genetic Services Laboratory, University of Chicago 4 3 0 0 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 4 0 0 0 7
Baylor Genetics 0 0 5 0 0 0 5
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
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
Academic Department of Medical Genetics, University of Cambridge 1 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Center for Individualized Medicine,Mayo Clinic 0 1 0 0 0 0 1
Dobyns Lab,Seattle Children's Research Institute 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 1 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Institutes of Biomedical Sciences,Shanxi University 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1

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