ClinVar Miner

Variants in gene combination LOC107303340, VHL

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Minimum submission review status: Collection method:
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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
213 113 574 222 78 8 1075

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Chuvash polycythemia; Von Hippel-Lindau syndrome 102 34 391 168 10 2 705
Von Hippel-Lindau syndrome 126 40 141 23 48 1 365
Hereditary cancer-predisposing syndrome 61 27 96 69 5 0 251
not provided 36 19 56 36 19 4 155
not specified 2 0 18 18 6 2 43
Chuvash polycythemia 13 2 26 1 0 0 39
VHL-related condition 0 0 12 8 0 0 20
Chuvash polycythemia; Pheochromocytoma; Von Hippel-Lindau syndrome; Nonpapillary renal cell carcinoma 2 0 13 4 0 0 19
Pheochromocytoma 3 4 2 0 0 0 9
Papillary renal cell carcinoma type 1 1 3 0 0 0 0 4
Acute leukemia of ambiguous lineage 1 0 0 0 0 0 1
Au-Kline syndrome 0 1 0 0 0 0 1
Congenital Erythrocytosis 1 0 0 0 0 0 1
Enchondromatosis 0 1 0 0 0 0 1
Familial infantile myasthenia 1 0 0 0 0 0 1
Lung sarcomatoid carcinoma 0 0 1 0 0 0 1
Maffucci syndrome 0 1 0 0 0 0 1
Neoplasm 1 0 0 0 0 0 1
Nonpapillary renal cell carcinoma 1 0 0 0 0 0 1
Renal cell carcinoma with paraneoplastic erythrocytosis 1 0 0 0 0 0 1
Von Hippel-Lindau syndrome; Cerebellar hemangioblastoma; Papillary renal cell carcinoma type 1; Skin adenoma 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 76
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 102 34 391 168 10 0 705
Ambry Genetics 58 27 88 63 1 0 237
Illumina Laboratory Services, Illumina 0 0 108 10 48 0 166
GeneDx 17 14 41 38 18 0 128
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 67 21 19 4 0 0 110
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 31 7 15 2 2 0 57
PreventionGenetics, part of Exact Sciences 7 2 19 12 0 0 40
Baylor Genetics 4 1 25 0 0 0 30
Urologic Oncology Branch, National Institutes of Health 30 0 0 0 0 0 30
Sema4, Sema4 0 0 13 12 4 0 29
OMIM 22 0 0 0 0 0 22
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 9 8 4 0 21
Fulgent Genetics, Fulgent Genetics 2 0 13 4 0 0 19
Counsyl 0 0 10 6 0 0 16
CeGaT Center for Human Genetics Tuebingen 3 0 4 7 1 0 15
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 9 2 2 1 0 0 14
Myriad Genetics, Inc. 7 2 0 1 0 0 10
Eurofins Ntd Llc (ga) 7 0 0 0 1 0 8
Clinical Genomics Labs, University Health Network 3 2 2 1 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 5 1 1 0 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 6 0 0 1 0 0 7
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 7 0 0 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 5 0 0 1 0 0 6
Genetic Services Laboratory, University of Chicago 1 1 0 3 0 0 5
Mendelics 1 1 2 0 0 0 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 4 0 0 0 4
Endocrinology Clinic, Seth G.S. Medical College 0 4 0 0 0 0 4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 0 2 0 0 0 4
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 2 0 1 1 0 0 4
Genetics and Molecular Pathology, SA Pathology 2 1 1 0 0 0 4
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 0 2 0 0 0 4
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 4 4
University of Washington Department of Laboratory Medicine, University of Washington 1 0 0 3 0 0 4
Center for Human Genetics, Inc, Center for Human Genetics, Inc 3 0 0 0 0 0 3
Revvity Omics, Revvity 1 0 2 0 0 0 3
CSER _CC_NCGL, University of Washington 0 0 1 2 0 0 3
Clinical Genetics and Genomics, Karolinska University Hospital 1 2 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+ 2 0 0 1 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 0 1 0 0 0 3
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 1 2 0 0 3
Athena Diagnostics Inc 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 1 1 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 1 0 0 0 0 2
ITMI 0 0 0 0 0 2 2
GeneKor MSA 0 0 1 1 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 2 0 0 0 0 2
CIViC knowledgebase, Washington University School of Medicine 2 0 0 0 0 0 2
3billion 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Department of Pharmacy, The First Affiliated Hospital of Zhengzhou University 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Vantari Genetics 0 0 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 1 0 0 0 1
Cancer medicine, Gaomi People's Hospital 1 0 0 0 0 0 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 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
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Salgia Laboratory, City of Hope 0 0 1 0 0 0 1

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