ClinVar Miner

Variants in gene COL5A1

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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 not provided total
60 25 363 312 151 3 778

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 39 6 182 99 51 3 372
not specified 0 1 20 179 142 0 315
not provided 24 13 143 6 21 0 207
Cardiovascular phenotype 2 1 74 63 23 0 163
Ehlers-Danlos syndrome, type 7A 0 0 44 42 7 0 93
Connective tissue disorder 0 1 9 23 0 0 33
Thoracic aortic aneurysm and aortic dissection 0 1 1 1 0 0 3
Aortic dilatation 0 0 1 0 0 0 1
Aortic valve disorder; Thoracic aortic aneurysm and aortic dissection 0 0 1 0 0 0 1
Arrhythmia; Joint dislocation; Joint laxity; Wolff-Parkinson-White syndrome; Arthralgia; Hyperextensible hand joints 0 0 1 0 0 0 1
Brugada syndrome 0 0 1 0 0 0 1
Hypertelorism; Abnormality of digit; Venous malformation; Dural ectasia 0 0 1 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 1
Inguinal hernia; Cataract; Abnormally lax or hyperextensible skin; Soft skin; Bruising susceptibility; Mitral valve prolapse; Gastroesophageal reflux; Pneumothorax; Difficulty walking; Patellar dislocation; Constrictive median neuropathy; Pain; Dysplasia of acetabulum 0 1 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 1
See cases 1 0 0 0 0 0 1
Talipes equinovarus; Cutis laxa; Hyperextensible skin; Soft skin; Bruising susceptibility; Atrophic scars; Joint hypermobility; Bilateral talipes equinovarus; Joint hyperflexibility; Edema of the dorsum of feet 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
GeneDx 20 11 122 146 100 0 399
Invitae 27 4 170 98 50 0 349
Ambry Genetics 2 1 75 63 23 0 164
PreventionGenetics 0 0 0 37 66 0 103
Illumina Clinical Services Laboratory,Illumina 0 0 44 42 7 0 93
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 12 8 25 0 46
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 1 18 8 9 0 40
Center for Human Genetics, Inc 0 2 13 24 0 0 39
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 17 0 17
Blueprint Genetics, 0 0 13 1 0 0 14
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 8 3 0 0 12
Fulgent Genetics 0 0 10 0 0 0 10
OMIM 8 0 0 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 2 0 0 0 4
Baylor Miraca Genetics Laboratories, 2 1 0 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 3 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 0 1
GeneReviews 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 0 0 1 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
ISCA site 1 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 0 1
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 1 0 1

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