ClinVar Miner

Variants in gene COL5A1

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
223 124 1223 1709 713 81 3424

Condition and significance breakdown #

Total conditions: 57
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ehlers-Danlos syndrome, classic type, 1 182 66 683 1226 458 9 2562
not provided 43 28 466 407 285 0 1161
Familial thoracic aortic aneurysm and aortic dissection 12 11 284 425 29 0 761
not specified 0 1 120 320 198 0 576
Ehlers-Danlos syndrome, classic type 15 9 38 48 41 11 154
Fibromuscular dysplasia, multifocal 1 1 3 1 144 0 150
COL5A1-related disorder 1 4 27 65 3 0 100
Ehlers-Danlos syndrome 6 6 35 34 18 0 99
Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal 2 1 26 15 4 0 48
Connective tissue disorder 0 1 9 23 0 0 33
Ovarian serous cystadenocarcinoma 0 0 0 0 0 12 12
Ehlers-Danlos syndrome, classic type, 2 1 0 8 1 0 0 10
Cardiovascular phenotype 1 1 7 0 0 0 9
Familial cancer of breast 0 0 0 0 0 7 7
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 7 7
Malignant tumor of esophagus 0 0 0 0 0 6 6
See cases 0 0 6 0 0 0 6
Uterine carcinosarcoma 0 0 0 0 0 6 6
Ehlers-Danlos syndrome, classic type, 2; Ehlers-Danlos syndrome, classic type, 1 0 0 0 0 0 5 5
Acute myeloid leukemia 0 0 0 0 0 4 4
Gastric cancer 0 0 0 0 0 4 4
Nonpapillary renal cell carcinoma 0 0 0 0 0 4 4
Papillary renal cell carcinoma type 1 0 0 0 0 0 4 4
Sarcoma 0 0 0 0 0 4 4
Abnormal bleeding; Thrombocytopenia 0 0 3 0 0 0 3
Cervical cancer 0 0 0 0 0 3 3
Lung cancer 0 0 0 0 0 3 3
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 3 3
Melanoma 0 0 0 0 0 3 3
Abnormal bleeding 0 0 2 0 0 0 2
Cholangiocarcinoma 0 0 0 0 0 2 2
Clear cell carcinoma of kidney 0 0 0 0 0 2 2
Pancreatic adenocarcinoma 0 0 0 0 0 2 2
Squamous cell lung carcinoma 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Aortic dilatation 0 0 1 0 0 0 1
Aortic valve disease 1; Familial thoracic aortic aneurysm and aortic dissection 0 0 1 0 0 0 1
Brugada syndrome 0 0 1 0 0 0 1
COL5A1-related disorders 0 1 0 0 0 0 1
Cardiac arrhythmia; Wolff-Parkinson-White pattern; Joint dislocation; Joint laxity; Arthralgia; Hyperextensible hand joints 0 0 1 0 0 0 1
Clubfoot; 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
Confusion 0 0 1 0 0 0 1
Ehlers-Danlos syndrome, classic type, 1; Neurodevelopmental disorder with or without autism or seizures 0 0 1 0 0 0 1
Ehlers-Danlos syndrome, classic type, 2; Ehlers-Danlos syndrome, classic type 0 0 0 0 0 1 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Hypertelorism; Abnormal digit morphology; Venous malformation; Dural ectasia 0 0 1 0 0 0 1
Hypoparathyroidism 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; Congenital hip dislocation 0 1 0 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Marfan syndrome 0 0 0 1 0 0 1
Ovarian cancer 0 0 0 0 0 1 1
Prostate cancer 0 0 1 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Thoracic aortic aneurysm or dissection 1 0 0 0 0 0 1
Uveal melanoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 103
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 168 44 640 1233 395 0 2480
GeneDx 33 16 352 343 329 0 1073
Ambry Genetics 12 7 283 425 29 0 756
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 1 109 189 144 0 451
Breakthrough Genomics, Breakthrough Genomics 1 0 1 75 148 0 225
PreventionGenetics, part of Exact Sciences 1 4 28 101 69 0 203
Mayo Clinic Laboratories, Mayo Clinic 0 6 67 68 29 0 170
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 1 40 55 52 0 150
Genome-Nilou Lab 0 0 0 0 144 0 144
CeGaT Center for Human Genetics Tuebingen 7 2 36 81 5 0 131
Genome Diagnostics Laboratory, The Hospital for Sick Children 3 4 35 34 18 0 94
Illumina Laboratory Services, Illumina 0 0 0 42 31 0 73
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 56 56
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 1 1 7 27 17 0 53
Fulgent Genetics, Fulgent Genetics 0 1 26 15 4 0 46
Eurofins Ntd Llc (ga) 4 1 18 8 9 0 40
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 2 13 24 0 0 39
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 11 18 0 30
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 3 17 5 0 25
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 3 13 7 0 23
Revvity Omics, Revvity 1 2 16 0 0 0 19
Blueprint Genetics 0 0 14 1 0 0 15
AiLife Diagnostics, AiLife Diagnostics 0 0 14 0 0 0 14
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 10 1 0 0 14
GenomeConnect, ClinGen 0 0 0 0 0 13 13
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 10 0 0 0 11
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 11 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 10 0 0 0 11
OMIM 9 0 0 0 0 0 9
Baylor Genetics 3 2 4 0 0 0 8
MGZ Medical Genetics Center 0 2 5 1 0 0 8
3billion 1 0 6 0 0 0 7
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 5 0 0 0 7
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 7 0 0 0 7
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 1 5 1 0 7
Mendelics 2 2 2 0 1 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 2 3 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 0 3 2 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 3 0 2 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 4 0 0 0 5
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 4 0 0 0 5
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 3 0 0 0 4
Département de Génétique, Hôpital Bichat, Assistance Publique Hôpitaux de Paris 0 4 0 0 0 0 4
MVZ Medizinische Genetik Mainz 1 0 3 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 1 0 3 0 0 0 4
Birmingham Platelet Group; University of Birmingham 0 0 3 0 0 0 3
Clinical Genetics Laboratory, Region Ostergotland 0 3 0 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 1 1 0 0 3
Institute of Human Genetics, Cologne University 1 1 1 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 2 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 0 3
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 2 0 0 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 2 0 0 0 2
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 1 0 1 0 0 0 2
Centre of Medical Genetics, University Hospital Muenster 0 0 1 1 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 1 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 1 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 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
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
ConGen 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 1
Division of Biology and Genetics, University of Brescia 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 0 1 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
MedGen Diagnostic Laboratory, MedGen Medical Centre 1 0 0 0 0 0 1
NHS Central & South Genomic Laboratory Hub 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1

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