ClinVar Miner

Variants in gene COL5A2

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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
11 21 358 301 158 4 715

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ehlers-Danlos syndrome, classic type 10 8 185 55 44 3 299
not provided 1 8 128 88 66 1 284
not specified 0 0 12 116 64 0 179
Ehlers-Danlos syndrome, type 7A 0 0 48 59 0 0 107
Ehlers-Danlos syndrome classic type 2 0 1 2 35 65 0 103
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
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: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 1 7 99 139 105 0 351
Invitae 3 8 174 86 47 0 318
Illumina Clinical Services Laboratory,Illumina 0 0 49 90 61 0 132
Ambry Genetics 0 0 56 28 20 0 104
PreventionGenetics,PreventionGenetics 0 0 0 22 28 0 50
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 11 9 21 0 41
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
Blueprint Genetics 0 1 19 2 0 0 22
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 15 5 0 0 21
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 12 0 12
OMIM 7 0 0 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 6
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Mendelics 0 0 1 1 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 Genetic Testing 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 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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