ClinVar Miner

Variants in gene VCAN

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 total
15 3 411 189 153 664

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 4 1 329 115 38 481
Wagner syndrome 12 1 80 77 75 242
Vitreoretinopathy 0 0 71 19 138 228
not specified 0 0 0 7 31 37
Retinal dystrophy 1 1 3 0 0 5
Malignant tumor of prostate 0 0 2 0 0 2
Inborn genetic diseases 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 4 1 315 114 38 472
Illumina Clinical Services Laboratory,Illumina 0 0 80 82 138 228
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 16 2 15 33
PreventionGenetics, PreventionGenetics 0 0 0 5 25 30
GeneReviews 11 0 0 0 0 11
OMIM 8 0 0 0 0 8
Blueprint Genetics 1 1 3 0 0 5
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 1 1 4
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 4 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 4 0 4
Science for Life laboratory, Karolinska Institutet 0 0 2 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 2
Molecular Genetics Laboratory,Institute for Ophthalmic Research 1 0 0 0 0 1
Ambry Genetics 1 0 0 0 0 1
Mendelics 0 1 0 0 0 1

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