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
87 40 201 116 13 4 408

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 20 2 128 8 0 0 158
Von Hippel-Lindau syndrome 66 24 52 12 4 0 148
Hereditary cancer-predisposing syndrome 19 12 76 32 3 0 142
not provided 14 5 38 74 6 1 130
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
Polycythemia 0 0 0 1 0 0 1
Renal cell carcinoma, papillary, 1 0 1 0 0 0 0 1
Wilms Tumor 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 22 3 133 70 6 0 234
Ambry Genetics 15 12 74 31 3 0 135
Division of Genomic Diagnostics,The 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 16 8 5 1 2 0 32
Counsyl 1 0 21 4 0 0 26
Illumina Clinical Services Laboratory,Illumina 0 0 8 4 1 0 13
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 4 3 3 1 1 0 12
OMIM 11 0 0 0 0 0 11
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 1 1 0 2 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 3 0 0 8
Mendelics 0 1 3 0 1 0 5
Fulgent Genetics,Fulgent Genetics 0 1 3 0 0 0 4
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
Athena Diagnostics Inc 1 0 0 0 1 0 2
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
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
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
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
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

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