ClinVar Miner

Variants studied for Von Hippel-Lindau syndrome

Coded as:
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
222 77 289 79 53 1 685

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LOC107303340, VHL 128 42 167 44 48 1 413
VHL 82 35 122 35 5 0 260
LOC107303339, LOC107303340, VHL 5 0 0 0 0 0 5
IRAK2, VHL 4 0 0 0 0 0 4
BRK1, VHL 2 0 0 0 0 0 2
SDHB 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 120 35 34 7 2 0 198
Illumina Laboratory Services, Illumina 0 0 127 12 52 0 191
All of Us Research Program, National Institutes of Health 1 2 108 54 0 0 165
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 49 15 1 2 1 0 68
Urologic Oncology Branch, National Institutes of Health 50 0 0 0 0 0 50
Counsyl 1 0 31 10 0 0 42
Myriad Genetics, Inc. 19 9 0 1 0 0 29
Clinical Genomics Labs, University Health Network 10 9 5 3 0 0 27
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 14 6 1 0 0 0 21
OMIM 17 0 0 0 0 0 17
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 9 0 1 0 0 0 10
Mendelics 0 2 5 0 1 0 8
Genetics and Molecular Pathology, SA Pathology 3 2 2 0 0 0 7
Center for Human Genetics, Inc, Center for Human Genetics, Inc 6 0 0 0 0 0 6
CSER _CC_NCGL, University of Washington 0 0 2 3 0 0 5
Color Diagnostics, LLC DBA Color Health 0 0 2 0 3 0 5
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 4 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 3 1 1 0 0 0 5
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 1 3 1 0 5
CIViC knowledgebase, Washington University School of Medicine 3 1 0 0 0 0 4
Baylor Genetics 1 0 2 0 0 0 3
Department of Pharmacy, The First Affiliated Hospital of Zhengzhou University 0 3 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 0 0 0 0 3
Institute of Human Genetics, Cologne University 1 1 0 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Invitae 1 0 1 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 1 0 0 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 1 0 0 0 1
deCODE genetics, Amgen 1 0 0 0 0 0 1
Swedish Neurofibromatosis Center, Swedish Medical Center 1 0 0 0 0 0 1
Department of Neurosurgery, Peking University First Hospital 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 1 0 0 0 0 1

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