ClinVar Miner

Variants studied for benign neoplasm of skin

Included ClinVar conditions (30):
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
68 24 122 71 82 15 369

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KRT4 3 0 24 15 42 0 83
FGFR1 4 7 43 26 2 2 80
KRT13 2 0 17 6 35 0 60
NSDHL 10 5 8 9 2 4 35
FGFR3 11 0 10 5 1 0 27
HRAS, LRRC56 9 0 7 4 0 1 21
KRAS 5 1 4 6 0 5 20
PIK3CA 13 4 4 0 0 3 20
NRAS 5 0 1 0 0 0 6
NEK9 3 0 0 0 0 0 3
PIK3R1 0 3 0 0 0 0 3
GNA14 0 0 2 0 0 0 2
KDR 0 1 1 0 0 0 2
​intergenic 0 0 1 0 0 0 1
COL7A1 0 1 0 0 0 0 1
FH 0 1 0 0 0 0 1
GJA4 1 0 0 0 0 0 1
GNA11 1 0 0 0 0 0 1
KRT10 0 1 0 0 0 0 1
MAP3K3 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 18 5 69 50 3 0 145
Illumina Laboratory Services, Illumina 0 0 41 20 75 0 136
OMIM 35 0 0 0 0 0 35
GeneReviews 1 0 0 0 0 14 15
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 10 0 0 0 0 0 10
Genetic Services Laboratory, University of Chicago 4 3 0 0 0 0 7
Clinical Genomics Laboratory, Washington University in St. Louis 4 0 3 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 3 0 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
Baylor Genetics 0 1 3 0 0 0 4
Yale Center for Mendelian Genomics, Yale University 1 2 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 1 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School 0 2 0 0 0 0 2
Mendelics 0 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 1 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Medical Genetics Laboratory, Aldo Moro University of Bari 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 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
3billion 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1

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