ClinVar Miner

Variants studied for Von Hippel-Lindau syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 total
147 49 154 54 15 409

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
LOC107303340, VHL 81 27 103 39 12 259
VHL 66 22 51 15 3 150

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 120 35 34 7 2 198
Illumina Clinical Services Laboratory,Illumina 0 0 80 31 13 124
Integrated Genetics/Laboratory Corporation of America 37 13 1 2 1 54
Counsyl 1 0 31 10 0 42
Invitae 6 3 8 7 0 24
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 13 3 0 0 0 16
OMIM 14 0 0 0 0 14
Center for Human Genetics, Inc 6 0 0 0 0 6
CSER_CC_NCGL; University of Washington Medical Center 0 0 2 3 0 5
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
PreventionGenetics 0 0 1 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 1 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 1

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