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
128 60 197 90 17 3 445

Condition and significance breakdown #

Total conditions: 12
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Von Hippel-Lindau syndrome 85 30 102 37 13 0 261
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 38 5 81 3 0 0 127
not provided 23 7 33 44 2 1 105
Hereditary cancer-predisposing syndrome 33 16 32 22 0 0 102
not specified 2 0 5 22 2 2 31
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
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

Submitter and significance breakdown #

Total submitters: 33
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 41 7 83 41 1 0 173
Illumina Clinical Services Laboratory,Illumina 0 0 72 27 12 0 111
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 67 21 19 4 0 0 110
Ambry Genetics 30 16 31 17 0 0 94
GeneDx 13 4 24 26 2 0 69
Integrated Genetics/Laboratory Corporation of America 23 5 8 1 1 0 38
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 1 2 1 0 0 13
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 7 0 0 0 1 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 1 1 0 0 0 6
Endocrinology Clinic, Seth G.S. Medical College 0 4 0 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 1 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 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
Database of Curated Mutations (DoCM) 0 3 0 0 0 0 3
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
Athena Diagnostics Inc 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 0 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
Clinical Genomics Lab,St. Jude Children's Research Hospital 1 0 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 1 1
Johns Hopkins Genomics,Johns Hopkins University 1 0 0 0 0 0 1
Cancer medicine,Gaomi People's 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.