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
479 111 309 294 127 1 8 1199

Condition and significance breakdown #

Total conditions: 25
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Ehlers-Danlos syndrome, type 4 452 55 170 65 18 0 5 732
not provided 32 39 83 150 87 0 1 373
not specified 1 0 28 93 50 0 0 160
Cardiovascular phenotype 14 8 54 39 16 0 0 131
Thoracic aortic aneurysm and aortic dissection 2 4 42 39 31 0 0 116
Connective tissue disorder 0 0 5 11 0 0 0 16
Familial aortopathy 0 4 0 2 2 0 0 8
POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME 5 2 0 0 0 0 0 6
Ehlers-Danlos syndrome, type 4; Ehlers-Danlos syndrome, type 3 0 1 1 0 0 0 1 3
Inborn genetic diseases 0 0 2 0 0 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
Ehlers-Danlos syndrome 0 0 0 0 1 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: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Collagen Diagnostic Laboratory,University of Washington 410 0 0 0 0 0 0 410
Invitae 46 36 123 130 28 0 0 363
GeneDx 27 29 62 118 79 0 0 315
Ambry Genetics 14 8 56 39 17 0 0 134
Color 0 0 33 36 27 0 0 96
Illumina Clinical Services Laboratory,Illumina 0 0 31 37 12 0 0 80
Integrated Genetics/Laboratory Corporation of America 1 9 12 8 17 0 0 47
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 1 11 8 20 0 0 44
PreventionGenetics,PreventionGenetics 0 0 0 11 29 0 0 40
OMIM 37 0 0 0 1 0 0 38
Center for Human Genetics, Inc 2 2 12 14 0 0 0 30
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 11 10 0 0 0 24
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 1 8 2 9 0 0 20
Blueprint Genetics 1 8 10 1 0 0 0 20
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 10 3 5 0 0 19
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 5 2 1 10 0 0 18
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 8 8
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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 3 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 2 0 0 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 1 1 0 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,Cologne University 0 0 2 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 2 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 0 1
Institute of Human Genetics,University of Goettingen 1 0 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
Center of Vascular Surgery,The Second Affiliated Hospital of Nanchang University 0 0 0 0 0 1 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

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