ClinVar Miner

Variants in gene COL3A1

See also:
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
470 92 283 205 86 1 6 1035

Condition and significance breakdown #

Total conditions: 24
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Ehlers-Danlos syndrome, type 4 442 36 138 95 33 0 5 712
not provided 31 38 79 9 34 0 1 186
not specified 0 0 26 92 49 0 0 156
Cardiovascular phenotype 13 8 58 36 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 0 0 0 0 0 0 5
Ehlers-Danlos syndrome 0 3 0 0 1 0 0 4
Ehlers-Danlos syndrome, type 4; Ehlers-Danlos syndrome, type 3 0 1 1 0 0 0 0 2
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
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: 39
Download table as spreadsheet
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
GeneDx 26 29 62 81 37 0 0 235
Invitae 35 23 92 60 24 0 0 234
Ambry Genetics 13 8 60 36 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 14 7 16 0 0 47
PreventionGenetics 0 0 0 11 29 0 0 40
OMIM 37 0 0 0 1 0 0 38
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 1 9 6 16 0 0 35
Center for Human Genetics, Inc 2 2 12 14 0 0 0 30
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 3 2 1 10 0 0 16
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 14 0 0 14
CSER_CC_NCGL; University of Washington Medical Center 0 0 4 3 0 0 0 7
Fulgent Genetics 2 0 4 0 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 3 1 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 0 6 6
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
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 0 2
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
Center of Vascular Surgery,The Second Affiliated Hospital of Nanchang University 0 0 0 0 0 1 0 1
Division of Medical Genetics,University of Versailles 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.