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
495 180 589 450 154 1 10 1681

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Ehlers-Danlos syndrome, type 4 464 112 299 154 68 0 7 1027
Familial thoracic aortic aneurysm and aortic dissection 5 13 293 242 39 0 0 586
not provided 37 41 88 113 70 0 1 339
not specified 1 0 38 101 51 0 0 177
Cardiovascular phenotype 14 14 47 40 16 0 0 131
none provided 1 2 1 3 20 0 0 27
Connective tissue disease 0 0 5 11 0 0 0 16
Polymicrogyria with or without vascular-type ehlers-danlos syndrome 5 4 5 0 0 0 0 13
Familial aortopathy 0 4 0 2 2 0 0 8
Isolated thoracic aortic aneurysm 0 0 4 0 0 0 0 4
Ehlers-Danlos syndrome, type 4; Ehlers-Danlos syndrome, type 3 0 1 1 0 0 0 1 3
Inborn genetic diseases 1 0 2 0 0 0 0 3
Ehlers-Danlos syndrome 0 1 0 0 1 0 0 2
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
EHLERS-DANLOS SYNDROME, NONVASCULAR VARIANT 1 0 0 0 0 0 0 1
Marfan syndrome 0 0 1 0 0 0 0 1
Marfanoid habitus 0 0 1 0 0 0 0 1
POLYMICROGYRIA WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME 1 0 0 0 0 0 0 1
Seizures; Connective tissue nevi 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 72 90 231 164 28 0 0 585
Color Health, Inc 3 4 283 238 32 0 0 560
Collagen Diagnostic Laboratory,University of Washington 410 0 0 0 0 0 0 410
GeneDx 27 29 62 118 79 0 0 315
Ambry Genetics 15 14 49 40 17 0 0 135
Illumina Clinical Services Laboratory,Illumina 0 0 46 14 56 0 0 116
Integrated Genetics/Laboratory Corporation of America 1 10 24 16 23 0 0 74
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 5 3 12 11 25 0 0 56
CeGaT Praxis fuer Humangenetik Tuebingen 4 3 15 24 0 0 0 46
PreventionGenetics, PreventionGenetics 0 0 0 11 29 0 0 40
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 6 14 5 14 0 0 39
OMIM 37 0 0 0 1 0 0 38
Center for Human Genetics, Inc,Center for Human Genetics, Inc 2 2 12 14 0 0 0 30
Blueprint Genetics 1 8 10 1 0 0 0 20
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 6 2 1 10 0 0 19
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 10 3 5 0 0 19
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 14 0 0 14
GenomeConnect, ClinGen 0 0 0 0 0 0 10 10
Baylor Genetics 0 1 6 0 0 0 0 7
CSER _CC_NCGL, University of Washington 0 0 4 3 0 0 0 7
Mendelics 1 0 0 1 4 0 0 6
Fulgent Genetics,Fulgent Genetics 2 0 4 0 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 3 0 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 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 Genomic and Experimental Medicine,University of Edinburgh 2 2 0 0 0 0 0 4
SIB Swiss Institute of Bioinformatics 2 2 0 0 0 0 0 4
Department of Vascular Biology,Beijing Anzhen Hospital 0 0 4 0 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 2 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,Cologne University 0 0 2 0 0 0 0 2
Clinical Genetics Karolinska University Hospital,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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 1 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 1 0 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 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
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 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
Clinical Genomics Program, Stanford Medicine 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

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