ClinVar Miner

Variants in gene combination LOC107303340, VHL

See also:
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
169 70 406 79 53 3 711

Condition and significance breakdown #

Total conditions: 14
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 59 12 268 43 1 0 383
Von Hippel-Lindau syndrome 116 33 137 20 49 0 346
Hereditary cancer-predisposing syndrome 35 14 32 22 0 0 102
not provided 24 9 33 19 2 1 81
not specified 2 0 7 22 2 2 33
Erythrocytosis, familial, 2 11 0 0 0 0 0 11
Pheochromocytoma 2 4 0 0 0 0 6
Renal cell carcinoma, papillary, 1 1 3 0 0 0 0 4
Erythrocytosis, familial, 2; Pheochromocytoma; Von Hippel-Lindau syndrome; Renal cell carcinoma, nonpapillary 1 0 2 0 0 0 3
Acute leukemia of ambiguous lineage 1 0 0 0 0 0 1
Familial infantile myasthenia 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; Renal cell carcinoma, papillary, 1; Skin adenoma 1 0 0 0 0 0 1
none provided 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 59 12 268 48 1 0 388
Illumina Clinical Services Laboratory,Illumina 0 0 108 10 48 0 166
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 67 21 19 4 0 0 110
Ambry Genetics 32 14 31 17 0 0 94
GeneDx 13 4 24 26 2 0 69
Integrated Genetics/Laboratory Corporation of America 27 6 10 1 1 0 45
Urologic Oncology Branch,National Institutes of Health 30 0 0 0 0 0 30
OMIM 22 0 0 0 0 0 22
PreventionGenetics, PreventionGenetics 6 2 8 4 0 0 20
Counsyl 0 0 10 6 0 0 16
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 9 2 2 1 0 0 14
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 7 0 0 0 1 0 8
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 5 1 1 0 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 4 1 0 0 6
Endocrinology Clinic, Seth G.S. Medical College 0 4 0 0 0 0 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
Mendelics 0 2 0 0 1 0 3
Fulgent Genetics,Fulgent Genetics 1 0 2 0 0 0 3
CSER _CC_NCGL, University of Washington 0 0 1 2 0 0 3
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 2 0 0 0 0 3
Database of Curated Mutations (DoCM) 0 3 0 0 0 0 3
Athena Diagnostics Inc 2 0 0 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
CIViC knowledgebase,Washington University School of Medicine 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Institute of Human Genetics,Cologne University 0 1 0 0 0 0 1
Vantari Genetics 0 0 0 1 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 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
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 1 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 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
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
Department of Neurosurgery,Peking University First Hospital 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.