ClinVar Miner

Variants in gene VHL

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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
124 43 290 127 13 4 534

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 58 7 225 72 6 0 368
Von Hippel-Lindau syndrome 82 24 60 10 5 0 173
Hereditary cancer-predisposing syndrome 19 12 73 35 3 0 142
not provided 14 6 41 28 1 1 88
not specified 0 0 5 34 8 3 48
Erythrocytosis, familial, 2; Pheochromocytoma; Von Hippel-Lindau syndrome; Renal cell carcinoma, nonpapillary 0 1 3 0 0 0 4
Pheochromocytoma 3 1 0 0 0 0 4
Neoplasm 0 2 0 0 0 0 2
Cerebellar hemangioblastoma; Pancreatic cysts; Retinal capillary hemangioma; Spinal hemangioblastoma 1 0 0 0 0 0 1
Erythrocytosis, familial, 2 1 0 0 0 0 0 1
Nephroblastoma 0 0 1 0 0 0 1
Polycythemia (disease) 0 0 0 1 0 0 1
Renal cell carcinoma, papillary, 1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 58 7 226 83 6 0 380
Ambry Genetics 15 12 71 34 3 0 135
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 54 14 15 3 2 0 88
GeneDx 8 2 23 34 7 0 74
PreventionGenetics, PreventionGenetics 8 2 10 11 3 0 34
Integrated Genetics/Laboratory Corporation of America 17 8 5 1 3 0 34
Counsyl 1 0 21 4 0 0 26
Illumina Clinical Services Laboratory,Illumina 0 0 19 2 4 0 25
Urologic Oncology Branch,National Institutes of Health 16 0 0 0 0 0 16
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 5 3 3 1 1 0 13
OMIM 11 0 0 0 0 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 5 3 0 0 9
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 1 1 0 2 0 8
Mendelics 0 1 3 0 1 0 5
Fulgent Genetics,Fulgent Genetics 0 1 3 0 0 0 4
Athena Diagnostics Inc 1 0 1 0 1 0 3
Center for Human Genetics, Inc,Center for Human Genetics, Inc 3 0 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 3 0 3
ITMI 0 0 0 0 0 3 3
CSER _CC_NCGL, University of Washington 0 0 1 2 0 0 3
Database of Curated Mutations (DoCM) 0 3 0 0 0 0 3
GeneKor MSA 1 0 1 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
CIViC knowledgebase,Washington University School of Medicine 1 1 0 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 1 1 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 0 1 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
Endocrinology Clinic, Seth G.S. Medical College 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 0 0 0 0 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 0 1
Cellular and Molecular Biology Laboratory,University of Campania Luigi Vanvitelli 1 0 0 0 0 0 1
Swedish Neurofibromatosis Center,Swedish Medical Center 1 0 0 0 0 0 1

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