ClinVar Miner

Variants in gene COL3A1

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Minimum submission review status: Collection method:
Minimum conflict level:
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
630 491 1530 1375 206 89 3843

Condition and significance breakdown #

Total conditions: 52
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ehlers-Danlos syndrome, type 4 562 315 1065 1003 94 8 2871
Familial thoracic aortic aneurysm and aortic dissection 62 128 684 589 57 0 1438
not provided 89 93 371 200 126 1 837
not specified 0 0 127 173 59 0 341
Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 8 7 74 4 3 8 103
COL3A1-related disorder 4 9 24 23 0 1 61
Ehlers-Danlos syndrome 1 8 26 10 13 0 57
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 11 12 6 2 8 0 38
Ovarian serous cystadenocarcinoma 0 0 0 0 0 22 22
Cardiovascular phenotype 4 8 8 0 0 0 20
Familial aortopathy 5 10 0 2 2 0 19
Connective tissue disorder 0 0 6 11 0 0 17
Lung cancer 0 0 0 0 0 9 9
Melanoma 0 0 0 0 0 7 7
Uterine corpus endometrial carcinoma 0 0 0 0 0 6 6
Familial cancer of breast 0 0 0 0 0 5 5
Sarcoma 0 0 0 0 0 5 5
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 5 5
Isolated thoracic aortic aneurysm 0 0 4 0 0 0 4
Nonpapillary renal cell carcinoma 0 0 0 0 0 4 4
See cases 1 1 2 0 0 0 4
Ehlers-Danlos syndrome, dominant type 4 0 0 3 0 0 0 3
Ehlers-Danlos syndrome, type 4; Ehlers-Danlos syndrome, type 3 0 1 1 0 0 1 3
Malignant tumor of esophagus 0 0 0 0 0 3 3
Aortic dissection 1 1 0 0 0 0 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Hereditary spastic paraplegia 4 0 2 0 0 0 0 2
Inborn genetic diseases 1 0 1 0 0 0 2
Squamous cell lung carcinoma 0 0 0 0 0 2 2
Thoracic aortic aneurysm or dissection 1 1 0 0 0 0 2
Abnormality of neuronal migration 0 0 0 0 1 0 1
Aortic aneurysm 0 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 2 0 0 1 0 0 0 1
Arterial dissection 0 0 1 0 0 0 1
COLLAGEN TYPE III POLYMORPHISM 0 0 0 0 1 0 1
Cervical cancer 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Congenital aneurysm of ascending aorta 1 0 0 0 0 0 1
Connective and Soft Tissue Disorder 0 1 0 0 0 0 1
Disproportionate tall stature 0 0 1 0 0 0 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Gastric cancer 0 0 0 0 0 1 1
Loeys-Dietz syndrome 0 0 1 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Marfan syndrome 0 0 1 0 0 0 1
Micrognathia 0 1 0 0 0 0 1
Ovarian cancer 0 0 0 0 0 1 1
POLYMICROGYRIA WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME 1 0 0 0 0 0 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Seizure; Connective tissue nevi 1 0 0 0 0 0 1
Thymoma 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 116
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 206 243 739 904 59 0 2151
Color Diagnostics, LLC DBA Color Health 15 30 568 464 31 0 1108
All of Us Research Program, National Institutes of Health 8 16 515 280 12 0 831
GeneDx 61 54 283 172 127 0 697
Ambry Genetics 56 96 193 276 35 0 656
Collagen Diagnostic Laboratory, University of Washington 401 0 0 0 0 0 401
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 15 26 116 115 37 0 309
Mayo Clinic Laboratories, Mayo Clinic 13 10 46 29 16 0 114
CeGaT Center for Human Genetics Tuebingen 7 9 36 55 1 0 108
PreventionGenetics, part of Exact Sciences 4 9 24 34 28 0 99
Illumina Laboratory Services, Illumina 0 0 34 8 55 0 97
Breakthrough Genomics, Breakthrough Genomics 0 0 1 26 62 0 89
Fulgent Genetics, Fulgent Genetics 7 5 71 2 3 0 88
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 7 5 21 26 25 0 84
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 9 35 15 22 0 81
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 70 70
Genome Diagnostics Laboratory, The Hospital for Sick Children 1 6 27 10 12 0 56
OMIM 34 0 0 0 1 0 35
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 16 2 2 10 0 32
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 3 6 2 12 9 0 32
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 2 12 14 0 0 30
Genome Diagnostics Laboratory, Amsterdam University Medical Center 3 0 1 10 11 0 25
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 0 10 8 0 20
Blueprint Genetics 1 8 9 1 0 0 19
Eurofins Ntd Llc (ga) 0 1 10 3 5 0 19
Baylor Genetics 1 6 8 0 0 0 15
Revvity Omics, Revvity 0 1 14 0 0 0 15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 3 5 0 0 0 13
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 9 2 0 0 12
Clinical Genetics Laboratory, Skane University Hospital Lund 1 6 5 0 0 0 12
GenomeConnect, ClinGen 0 0 0 0 0 11 11
3billion 6 2 1 1 0 0 10
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 7 2 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 9 0 0 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 2 7 0 0 0 0 9
Genome-Nilou Lab 0 0 0 0 8 0 8
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 8 8
Mendelics 1 0 2 1 4 0 8
CSER _CC_NCGL, University of Washington 0 0 4 3 0 0 7
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 3 3 0 0 0 7
Cohesion Phenomics 0 0 0 0 6 0 6
Genetics and Molecular Pathology, SA Pathology 1 1 4 0 0 0 6
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 3 2 1 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 0 4 2 0 0 0 6
MGZ Medical Genetics Center 0 1 5 0 0 0 6
AiLife Diagnostics, AiLife Diagnostics 0 0 5 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 1 3 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 2 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 4 1 0 0 0 5
deCODE genetics, Amgen 1 4 0 0 0 0 5
Centre for Genomic and Experimental Medicine, University of Edinburgh 2 2 0 0 0 0 4
Centre of Medical Genetics, University Hospital Muenster 1 1 2 0 0 0 4
Dasa 0 3 1 0 0 0 4
Department of Vascular Biology, Beijing Anzhen Hospital 0 0 4 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 3 0 4
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 2 0 0 4
SIB Swiss Institute of Bioinformatics 2 2 0 0 0 0 4
Centre of Medical Genetics, University of Antwerp 0 0 3 0 0 0 3
Clinical Genetics and Genomics, Karolinska University Hospital 2 1 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 0 0 3 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 2 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 2 0 1 0 0 0 3
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 1 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 1 1 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 1 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 1 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 0 2 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 2 0 0 0 2
Institute of Human Genetics, Heidelberg University 0 2 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 1 0 1 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 2 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 1 0 1 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 1 1 0 0 2
NHS Central & South Genomic Laboratory Hub 1 1 0 0 0 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 2 0 0 0 0 2
Athena Diagnostics 0 0 0 0 1 0 1
Center of Vascular Surgery, The Second Affiliated Hospital of Nanchang University 1 0 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 0 1
Department of Gastroenterological Surgery, Kumamoto University 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Department of Periodontology, Nanjing Stomatological Hospital, Medical School of Nanjing University 0 1 0 0 0 0 1
Division of Biology and Genetics, University of Brescia 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Division of Medical Genetics at University of Versailles, Paris Saclay University 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 0 0 0 0 1 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 1 0 0 0 0 0 1
Human Molecular Lab, Hazara University 1 0 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 0 1 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 1 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 0 1 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 0 1 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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