ClinVar Miner

Variants in gene COL3A1

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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 risk factor not provided total
575 344 1037 962 210 1 16 2816

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Ehlers-Danlos syndrome, type 4 520 223 630 680 89 0 8 2036
Familial thoracic aortic aneurysm and aortic dissection 40 65 487 373 47 0 0 974
not provided 66 66 241 165 135 0 1 644
not specified 0 0 57 91 55 0 0 188
Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 4 4 70 4 3 0 5 90
Ehlers-Danlos syndrome 1 7 26 10 13 0 0 56
COL3A1-related condition 4 6 17 18 0 0 0 45
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 5 6 5 0 8 0 0 23
Connective tissue disorder 0 0 6 11 0 0 0 17
Inborn genetic diseases 1 1 11 2 0 0 0 15
Cardiovascular phenotype 2 2 9 1 0 0 0 14
Familial aortopathy 1 5 0 2 2 0 0 10
Isolated thoracic aortic aneurysm 0 0 4 0 0 0 0 4
See cases 1 1 2 0 0 0 0 4
Ehlers-Danlos syndrome, type 4; Ehlers-Danlos syndrome, type 3 0 1 1 0 0 0 1 3
Loeys-Dietz syndrome 0 1 1 0 0 0 0 2
Abnormality of neuronal migration 0 0 0 0 1 0 0 1
Aortic aneurysm 0 0 1 0 0 0 0 1
Aortic aneurysm, familial thoracic 2 0 0 1 0 0 0 0 1
Aortic dissection 0 1 0 0 0 0 0 1
Arterial dissection 0 0 1 0 0 0 0 1
COL3A1-Related Disorder 0 0 0 0 0 0 1 1
COLLAGEN TYPE III POLYMORPHISM 0 0 0 0 1 0 0 1
Congenital aneurysm of ascending aorta 0 0 0 0 0 1 0 1
Disproportionate tall stature 0 0 1 0 0 0 0 1
Hereditary spastic paraplegia 4 0 1 0 0 0 0 0 1
Marfan syndrome 0 0 1 0 0 0 0 1
POLYMICROGYRIA WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME 1 0 0 0 0 0 0 1
Seizure; Connective tissue nevi 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 90
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 159 187 553 668 54 0 0 1621
Color Diagnostics, LLC DBA Color Health 7 6 424 315 31 0 0 783
GeneDx 49 38 186 173 127 0 0 573
Collagen Diagnostic Laboratory, University of Washington 401 0 0 0 0 0 0 401
Ambry Genetics 36 53 108 140 25 0 0 361
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 12 46 31 32 0 0 125
Illumina Laboratory Services, Illumina 0 0 45 14 56 0 0 115
PreventionGenetics, part of Exact Sciences 4 6 17 29 28 0 0 84
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 9 35 15 22 0 0 81
Fulgent Genetics, Fulgent Genetics 6 3 67 2 3 0 0 81
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 5 5 15 21 25 0 0 71
CeGaT Center for Human Genetics Tuebingen 4 5 20 33 1 0 0 63
Genome Diagnostics Laboratory, The Hospital for Sick Children 1 6 27 10 12 0 0 56
OMIM 34 0 0 0 1 0 0 35
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 2 12 14 0 0 0 30
Mayo Clinic Laboratories, Mayo Clinic 3 7 15 0 0 0 0 25
Genome Diagnostics Laboratory, Amsterdam University Medical Center 3 0 1 10 11 0 0 25
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 0 10 8 0 0 20
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 6 2 1 10 0 0 19
Eurofins Ntd Llc (ga) 0 1 10 3 5 0 0 19
Blueprint Genetics 1 8 9 1 0 0 0 19
Baylor Genetics 1 5 8 0 0 0 0 14
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 14 0 0 14
Revvity Omics, Revvity 0 1 11 0 0 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 9 2 0 0 0 12
GenomeConnect, ClinGen 0 0 0 0 0 0 11 11
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 7 2 0 0 10
Mendelics 1 0 2 1 4 0 0 8
Genome-Nilou Lab 0 0 0 0 8 0 0 8
CSER _CC_NCGL, University of Washington 0 0 4 3 0 0 0 7
MGZ Medical Genetics Center 0 1 5 0 0 0 0 6
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 3 2 1 0 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 1 1 4 0 0 0 0 6
Cohesion Phenomics 0 0 0 0 6 0 0 6
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 2 3 0 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 1 3 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 2 0 0 0 0 5
deCODE genetics, Amgen 1 4 0 0 0 0 0 5
AiLife Diagnostics, AiLife Diagnostics 0 0 5 0 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 5 5
Centre for Genomic and Experimental Medicine, University of Edinburgh 2 2 0 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 3 1 0 0 0 0 4
SIB Swiss Institute of Bioinformatics 2 2 0 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 3 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 3 1 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 2 0 0 0 4
Institute of Human Genetics, University Hospital Muenster 1 1 2 0 0 0 0 4
Department of Vascular Biology, Beijing Anzhen Hospital 0 0 4 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 0 0 3 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 2 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 1 0 1 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 2 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 1 1 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 0 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 1 1 0 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 2 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 0 1 0 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 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 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 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 1
Center of Vascular Surgery, The Second Affiliated Hospital of Nanchang University 0 0 0 0 0 1 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 0 1
Division of Medical Genetics at University of Versailles, Paris Saclay University 0 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 0 1 0 0 1
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 0 1
Department of Periodontology, Nanjing Stomatological Hospital, Medical School of Nanjing University 0 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 0 1
DASA 0 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 1
Department of Gastroenterological Surgery, Kumamoto University 0 1 0 0 0 0 0 1

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