ClinVar Miner

Variants in gene COL5A2

Minimum submission review status: Collection method:
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Gene type:
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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
13 22 437 333 158 5 822

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ehlers-Danlos syndrome, classic type 11 8 268 105 44 4 431
not provided 1 8 133 88 66 1 289
not specified 0 0 13 116 64 0 180
Ehlers-Danlos syndrome classic type 2 1 3 16 38 67 0 124
Ehlers-Danlos syndrome, type 7A 0 0 48 59 0 0 107
Cardiovascular phenotype 0 0 54 28 20 0 102
Connective tissue disease 0 1 11 18 0 0 30
Familial thoracic aortic aneurysm and aortic dissection 0 2 3 1 0 0 6
Marfan syndrome 0 0 4 0 0 0 4
Abnormal bleeding; Thrombocytopenia 0 0 2 0 0 0 2
Inborn genetic diseases 0 0 2 0 0 0 2
Atrial septal defect; High palate; Frontal bossing; Thin upper lip vermilion; Pectus carinatum; Generalized hypotonia; Joint laxity; Abnormality of the cerebral white matter; Downturned corners of mouth; Cerebral white matter atrophy 0 0 1 0 0 0 1
Familial aortopathy 0 0 1 0 0 0 1
Familial thoracic aortic aneurysm and aortic dissection; Disproportionate tall stature 0 0 1 0 0 0 1
Loeys-Dietz syndrome 0 0 1 0 0 0 1
Marfanoid habitus 0 0 1 0 0 0 1
Osteogenesis imperfecta type III 0 0 1 0 0 0 1
Telecanthus; Hyperextensible skin; Joint hypermobility; Spinal deformities 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 4 8 254 122 47 0 435
GeneDx 1 7 100 139 105 0 352
Illumina Clinical Services Laboratory,Illumina 0 0 49 90 61 0 132
Ambry Genetics 0 0 56 28 20 0 104
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 16 12 27 0 55
PreventionGenetics, PreventionGenetics 0 0 0 22 28 0 50
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 1 12 22 0 0 35
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 14 1 9 0 24
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 17 5 0 0 23
Blueprint Genetics 0 1 19 2 0 0 22
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 12 0 13
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 9 0 0 0 9
OMIM 7 0 0 0 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 6 0 0 0 7
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 5 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 0 3
Baylor Genetics 0 1 1 0 0 0 2
Mendelics 0 0 1 1 0 0 2
Birmingham Platelet Group; University of Birmingham 0 0 2 0 0 0 2
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 2 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 0 1
Institute of Human Genetics,Cologne University 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 1
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 0 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 0 1
Paediatric Orthopaedics Research Lab,Christian Medical College 0 0 1 0 0 0 1

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