ClinVar Miner

Variants in gene COL5A2

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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
32 56 1066 1243 304 70 2392

Condition and significance breakdown #

Total conditions: 49
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ehlers-Danlos syndrome, classic type, 1 16 18 617 907 139 3 1696
not provided 2 15 393 220 129 2 721
Familial thoracic aortic aneurysm and aortic dissection 0 5 228 266 28 0 526
not specified 0 0 103 197 107 0 363
Ehlers-Danlos syndrome, classic type, 2 7 17 84 57 80 3 237
COL5A2-related disorder 0 2 22 38 2 0 64
Ehlers-Danlos syndrome 0 1 27 13 16 0 57
Ehlers-Danlos syndrome, classic type 9 1 30 5 1 5 51
Connective tissue disorder 0 1 11 18 0 0 30
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 12 12
Ovarian serous cystadenocarcinoma 0 0 0 0 0 8 8
Lung cancer 0 0 0 0 0 6 6
Familial cancer of breast 0 0 0 0 0 5 5
Hepatocellular carcinoma 0 0 0 0 0 5 5
Sarcoma 0 0 0 0 0 5 5
Marfan syndrome 0 0 4 0 0 0 4
Melanoma 0 0 0 0 0 4 4
Cardiovascular phenotype 0 0 3 0 0 0 3
Cervical cancer 0 0 0 0 0 3 3
Cholangiocarcinoma 0 0 0 0 0 3 3
Familial pancreatic carcinoma 0 0 0 0 0 3 3
Malignant tumor of esophagus 0 0 0 0 0 3 3
Abnormal bleeding; Thrombocytopenia 0 0 2 0 0 0 2
Gastric cancer 0 0 0 0 0 2 2
Pancreatic adenocarcinoma 0 0 0 0 0 2 2
Papillary renal cell carcinoma type 1 0 0 0 0 0 2 2
Squamous cell lung carcinoma 0 0 0 0 0 2 2
Thymoma 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Acute myeloid leukemia 0 0 0 0 0 1 1
Aortic aneurysm, familial thoracic 10 0 1 0 0 0 0 1
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Disproportionate tall stature 0 0 1 0 0 0 1
Ehlers-Danlos syndrome, arthrochalasia type 0 0 1 0 0 0 1
Familial aortopathy 0 0 1 0 0 0 1
Familial thoracic aortic aneurysm and aortic dissection; Disproportionate tall stature 0 0 1 0 0 0 1
Genetic developmental and epileptic encephalopathy 0 0 0 1 0 0 1
Keratoconus 0 1 0 0 0 0 1
Loeys-Dietz syndrome 0 0 1 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Osteogenesis imperfecta type III 0 0 1 0 0 0 1
Ovarian cancer 0 0 0 0 0 1 1
See cases 0 0 0 0 0 1 1
Telecanthus 0 0 1 0 0 0 1
Telecanthus; Hyperextensible skin; Joint hypermobility; Neuropathic spinal arthropathy 0 1 0 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 82
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 17 19 621 910 139 0 1706
GeneDx 1 10 310 214 158 0 693
Ambry Genetics 0 1 226 266 28 0 521
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 93 100 87 0 280
Breakthrough Genomics, Breakthrough Genomics 0 0 5 73 48 0 126
Mayo Clinic Laboratories, Mayo Clinic 0 3 53 35 27 0 118
PreventionGenetics, part of Exact Sciences 0 2 22 60 30 0 114
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 31 33 39 0 103
Illumina Laboratory Services, Illumina 0 0 0 33 61 0 94
CeGaT Center for Human Genetics Tuebingen 1 2 34 30 14 0 81
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 56 56
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 27 12 16 0 55
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 1 12 22 0 0 35
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 2 19 13 0 34
Eurofins Ntd Llc (ga) 0 0 14 1 9 0 24
Fulgent Genetics, Fulgent Genetics 0 1 19 3 0 0 23
Blueprint Genetics 0 1 19 2 0 0 22
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 13 7 0 20
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 3 16 0 19
AiLife Diagnostics, AiLife Diagnostics 0 0 16 0 0 0 16
Revvity Omics, Revvity 0 3 11 0 0 0 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 10 2 0 0 13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 11 1 0 12
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 12 0 0 0 12
Genome-Nilou Lab 0 0 0 0 8 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 6 0 0 0 7
OMIM 7 0 0 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 6
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 5 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 3 0 0 0 6
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 4 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 2 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 0 3 0 0 0 4
Baylor Genetics 0 1 2 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 3 0 0 3
Mendelics 0 0 2 1 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 2 0 0 0 3
3billion 1 1 0 0 0 0 2
Birmingham Platelet Group; University of Birmingham 0 0 2 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 0 2 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Centre for Genomic and Experimental Medicine, University of Edinburgh 0 2 0 0 0 0 2
Département de Génétique, Hôpital Bichat, Assistance Publique Hôpitaux de Paris 0 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 1 0 2
New York Genome Center 0 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 0 2 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Athena Diagnostics 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
DECIPHER, Wellcome Sanger Institute 0 0 0 0 0 1 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 0 0 0 1
Gansu Provincial Maternity and Child Care Hospital 1 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 0 1 0 0 0 1
Human Development and Health, University of Southampton 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Paediatric Orthopaedics Research Lab, Christian Medical College 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Refractive Surgery Department, Bright Eye Hospital 0 1 0 0 0 0 1
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 0 0 1 0 0 0 1
The Genetics Institute, Rambam Health Care Campus 0 1 0 0 0 0 1

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