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
148 79 429 226 26 6 790

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Chuvash polycythemia; Von Hippel-Lindau syndrome 90 18 332 155 9 1 604
Hereditary cancer-predisposing syndrome 39 28 173 118 9 0 357
Von Hippel-Lindau syndrome 81 34 61 12 5 0 176
not provided 19 12 81 34 12 2 147
not specified 0 0 21 36 8 3 61
Chuvash polycythemia 4 2 30 0 0 0 36
Chuvash polycythemia; Pheochromocytoma; Von Hippel-Lindau syndrome; Nonpapillary renal cell carcinoma 0 1 27 2 0 0 30
VHL-related condition 4 0 12 13 0 0 29
Pheochromocytoma 3 1 0 0 0 0 4
Enchondromatosis 0 2 0 0 0 0 2
Hepatoblastoma 0 1 1 0 0 0 2
Neoplasm 0 2 0 0 0 0 2
Ovarian cancer 0 0 0 0 2 0 2
Cerebellar hemangioblastoma; Pancreatic cysts; Retinal capillary hemangioma; Spinal hemangioblastoma 1 0 0 0 0 0 1
Diffuse midline glioma, H3 K27-altered 0 0 1 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 1
Maffucci syndrome 0 1 0 0 0 0 1
Papillary renal cell carcinoma type 1 0 1 0 0 0 0 1
Polycythemia 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 90 18 333 155 9 0 605
Ambry Genetics 36 26 163 114 5 0 344
GeneDx 11 5 63 51 16 0 146
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 54 14 15 3 2 0 88
PreventionGenetics, part of Exact Sciences 10 2 18 25 3 0 58
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 21 8 8 1 3 0 41
Sema4, Sema4 0 2 16 14 6 0 38
Baylor Genetics 2 2 30 0 0 0 34
Fulgent Genetics, Fulgent Genetics 0 1 27 2 0 0 30
Counsyl 1 0 21 4 0 0 26
Illumina Laboratory Services, Illumina 0 0 19 2 4 0 25
Clinical Genomics Labs, University Health Network 7 7 3 2 0 0 19
CeGaT Center for Human Genetics Tuebingen 2 2 7 7 0 0 18
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 7 8 1 0 17
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 3 3 1 1 0 13
OMIM 11 0 0 0 0 0 11
Myriad Genetics, Inc. 7 4 0 0 0 0 11
Genetic Services Laboratory, University of Chicago 0 0 9 0 1 0 10
Urologic Oncology Branch, National Institutes of Health 10 0 0 0 0 0 10
Eurofins Ntd Llc (ga) 4 1 1 0 2 0 8
Mendelics 0 1 4 0 1 0 6
Revvity Omics, Revvity 0 1 4 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 2 1 0 5
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 3 1 0 0 5
Color Diagnostics, LLC DBA Color Health 0 0 2 0 3 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 3 0 4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 2 1 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
ITMI 0 0 0 0 0 3 3
CSER _CC_NCGL, University of Washington 0 0 1 2 0 0 3
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 3 0 0 0 0 3
Database of Curated Mutations (DoCM) 0 3 0 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 2 0 3
Genetics and Molecular Pathology, SA Pathology 1 1 1 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 1 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 2 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 1 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 1 1 0 0 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
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
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 2 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 1 1 0 0 2
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 2 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 2
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 1 1 0 0 0 2
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 0 0 0 2 0 2
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 1 1 0 2
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 1 0 1 0 0 0 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
MGZ Medical Genetics Center 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
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 0 1
deCODE genetics, Amgen 1 0 0 0 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
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Department of Pharmacy, The First Affiliated Hospital of Zhengzhou University 0 1 0 0 0 0 1

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