ClinVar Miner

Variants in gene combination LOC107303340, VHL

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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
112 52 177 67 15 3 391

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Von Hippel-Lindau syndrome 81 27 103 39 12 0 259
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 23 4 68 21 1 0 117
Hereditary cancer-predisposing syndrome 26 11 18 11 0 0 65
not provided 23 7 31 4 1 1 64
not specified 1 0 5 22 2 2 30
Erythrocytosis, familial, 2 6 0 0 0 0 0 6
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
Cerebellar hemangioblastoma 1 0 0 0 0 0 1
Renal cell carcinoma with paraneoplastic erythrocytosis 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 27 6 71 25 1 0 130
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
GeneDx 13 4 24 22 1 0 64
Ambry Genetics 23 11 17 6 0 0 57
Integrated Genetics/Laboratory Corporation of America 23 5 8 1 1 0 38
PreventionGenetics 6 2 8 4 0 0 20
Counsyl 0 0 10 6 0 0 16
OMIM 15 0 0 0 0 0 15
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 3 1 1 0 0 0 5
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 3 0 0 0 0 0 3
Fulgent Genetics 1 0 2 0 0 0 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
ITMI 0 0 0 0 0 2 2
GeneKor MSA 0 0 1 1 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 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

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