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
9 17 299 206 80 3 524

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ehlers-Danlos syndrome, classic type 8 5 123 46 37 2 218
not specified 0 0 12 116 66 0 181
not provided 1 8 120 4 20 1 151
Ehlers-Danlos syndrome, type 7A 0 0 48 59 0 0 107
Cardiovascular phenotype 0 0 55 27 20 0 102
Connective tissue disorder 0 1 11 18 0 0 30
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
Loeys-Dietz syndrome 0 0 1 0 0 0 1
Marfanoid habitus 0 0 1 0 0 0 1
Telecanthus; Hyperextensible skin; Joint hypermobility; Spinal deformities 0 1 0 0 0 0 1
Thoracic aortic aneurysm and aortic dissection; Disproportionate tall stature 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 1 7 99 94 58 0 259
Invitae 1 5 113 42 37 0 198
Illumina Clinical Services Laboratory,Illumina 0 0 49 59 0 0 108
Ambry Genetics 0 0 57 27 20 0 104
PreventionGenetics 0 0 0 22 28 0 50
Center for Human Genetics, Inc 0 1 12 22 0 0 35
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 9 6 15 0 30
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 14 1 9 0 24
Blueprint Genetics, 0 1 19 2 0 0 22
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 12 0 12
OMIM 7 0 0 0 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 4 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 5
Fulgent Genetics 0 0 4 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 3 3
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 0 1
Mendelics 0 0 1 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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1

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