ClinVar Miner

Variants studied for integumentary system benign neoplasm

Included ClinVar conditions (40):
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
76 36 219 83 83 15 494

Gene and significance breakdown #

Total genes and gene combinations: 23
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FGFR1 5 10 91 35 3 2 142
KRT4 3 0 24 16 42 0 84
KRT13 2 0 17 6 35 0 60
NSDHL 10 5 25 11 2 4 54
PIK3CA 14 7 17 0 0 3 35
FGFR3 13 0 13 5 1 0 32
KRAS 6 1 13 6 0 5 30
HRAS, LRRC56 9 5 12 4 0 1 28
NRAS 5 0 1 0 0 0 6
MFN2 2 0 1 0 0 0 3
NEK9 3 0 0 0 0 0 3
PIK3R1 0 3 0 0 0 0 3
​intergenic 1 0 1 0 0 0 2
GNA14 0 0 2 0 0 0 2
KDR 0 1 1 0 0 0 2
ACTB 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
TBX5 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 22 7 161 60 4 0 254
Illumina Laboratory Services, Illumina 0 0 41 20 75 0 136
OMIM 36 0 0 0 0 0 36
GeneReviews 1 0 0 0 0 14 15
Juno Genomics, Hangzhou Juno Genomics, Inc 7 3 3 0 0 0 13
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 10 0 0 0 0 0 10
Clinical Genomics Laboratory, Washington University in St. Louis 4 2 3 0 0 0 9
Genetic Services Laboratory, University of Chicago 4 3 0 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
Solve-RD Consortium 0 4 0 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 2
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
3billion, Medical Genetics 1 0 0 1 0 0 2
Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School 0 2 0 0 0 0 2
Institute of Tissue Medicine and Pathology, University of Bern 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
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 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
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
Coban-Akdemir Lab, University of Texas Health Science Center 0 0 1 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 1

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