ClinVar Miner

Variants in gene VCAN

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Minimum submission review status: Collection method:
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Gene type:

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
20 8 1661 725 193 48 2471

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 15 2 1402 674 128 0 2178
Inborn genetic diseases 1 0 423 28 0 0 452
Vitreoretinopathy 0 0 63 18 137 0 218
Wagner disease 10 4 56 14 50 11 133
VCAN-related disorder 0 0 37 49 7 0 93
not specified 0 0 4 10 39 0 52
Retinal dystrophy 1 1 15 0 0 0 17
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 13 13
Ovarian serous cystadenocarcinoma 0 0 0 0 0 6 6
Gastric cancer 0 0 0 0 0 3 3
Malignant tumor of urinary bladder 0 0 0 0 0 3 3
Uterine corpus endometrial carcinoma 0 0 0 0 0 3 3
Melanoma 0 0 0 0 0 2 2
Prostate cancer 0 0 2 0 0 0 2
Squamous cell carcinoma of the head and neck 0 0 0 0 0 2 2
Acute myeloid leukemia 0 0 0 0 0 1 1
Cervical cancer 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Familial cancer of breast 0 0 0 0 0 1 1
High myopia, early-onset 1 0 0 0 0 0 1
Myopia 25, autosomal dominant 0 1 0 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Stickler syndrome 1 0 0 0 0 0 1
Wagner disease; Retinitis pigmentosa 0 0 0 0 0 1 1
Wagner disease; Retinitis pigmentosa; Congenital heart disease; Premature loss of teeth 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 15 2 1371 638 116 0 2142
Ambry Genetics 1 0 423 28 0 0 452
Illumina Laboratory Services, Illumina 0 0 63 18 137 0 218
PreventionGenetics, part of Exact Sciences 0 0 37 54 32 0 123
GeneDx 0 0 31 1 28 0 60
CeGaT Center for Human Genetics Tuebingen 0 0 5 27 8 0 40
Breakthrough Genomics, Breakthrough Genomics 0 0 9 28 0 0 37
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 36 36
Eurofins Ntd Llc (ga) 0 0 16 2 15 0 33
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 15 2 0 19
Clinical Genetics, Academic Medical Center 0 0 1 5 11 0 17
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 0 12 0 0 0 12
GeneReviews 0 0 0 0 0 11 11
Genome-Nilou Lab 0 0 0 0 11 0 11
OMIM 8 0 0 0 0 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 2 1 0 7
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 6 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 1 2 0 6
Fulgent Genetics, Fulgent Genetics 0 0 4 2 0 0 6
Blueprint Genetics 1 1 3 0 0 0 5
Revvity Omics, Revvity 0 0 5 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 2 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 4 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 1 0 0 3
3billion 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 2 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Science for Life laboratory, Karolinska Institutet 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Molecular Genetics Laboratory, Institute for Ophthalmic Research 1 0 0 0 0 0 1
Ningxia Clinical Research Institute, People's Hospital of Ningxia Hui Autonomous Region 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1
Ophthalmic Genetics and Bioinformatics Laboratory, Shanghai Puxi and Light Genomics Technology Co., Ltd. 1 0 0 0 0 0 1

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