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
68 30 407 470 258 4 1082

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 25 13 152 254 181 0 610
Ehlers-Danlos syndrome, classic type 48 12 233 36 30 4 354
not specified 0 1 20 178 135 0 309
Cardiovascular phenotype 2 1 69 68 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
Abnormal bleeding 0 0 2 0 0 0 2
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: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 21 11 122 228 217 0 599
Invitae 36 8 220 202 55 0 521
Ambry Genetics 2 1 70 68 23 0 164
PreventionGenetics,PreventionGenetics 0 0 1 36 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 13 12 33 0 59
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 19 6 0 0 26
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 17 0 17
Blueprint Genetics 0 0 13 1 0 0 14
Fulgent Genetics,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
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Baylor Genetics 2 1 0 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 3 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 2 0 0 0 3
Mendelics 0 1 0 0 1 0 2
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
Lineagen, Inc 0 0 1 0 0 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 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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