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
83 36 152 88 12 3 332

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 16 1 96 36 6 0 155
Von Hippel-Lindau syndrome 66 22 51 15 3 0 150
Hereditary cancer-predisposing syndrome 19 9 31 18 3 0 80
not provided 14 5 34 13 1 0 64
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 1 0 0 0 0 0 1
Cerebellar hemangioblastoma; Pancreatic cysts; Retinal capillary hemangioma; Spinal hemangioblastoma 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: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 18 2 101 39 6 0 166
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 54 14 15 3 2 0 88
GeneDx 8 2 23 33 7 0 73
Ambry Genetics 15 9 28 17 3 0 72
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 2 3 1 1 0 11
OMIM 10 0 0 0 0 0 10
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 1 1 0 2 0 8
Fulgent Genetics 0 1 3 0 0 0 4
Center for Human Genetics, Inc 3 0 0 0 0 0 3
ITMI 0 0 0 0 0 3 3
CSER_CC_NCGL; University of Washington Medical Center 0 0 1 2 0 0 3
Database of Curated Mutations (DoCM) 0 3 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 2 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 1 0 0 2
Gharavi Laboratory,Columbia University 0 0 1 1 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 0 1
Biesecker Lab/Human Development 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
University of Washington Department of Laboratory Medicine,University of Washington 0 0 0 1 0 0 1

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