ClinVar Miner

Variants in gene COL4A5

Minimum submission review status: Collection method:
Minimum conflict level:
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
727 777 581 984 219 4 2936

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 466 311 319 913 215 0 2125
X-linked Alport syndrome 330 483 219 92 29 4 1099
COL4A5-related disorder 18 25 18 33 4 0 98
not specified 0 2 44 30 20 0 94
Inborn genetic diseases 8 4 69 10 0 0 91
Alport syndrome 29 21 4 0 1 0 55
Kidney disorder 0 2 3 1 3 0 9
Nephrotic syndrome 1 3 2 0 0 0 6
See cases 2 2 1 0 0 0 5
Autosomal dominant Alport syndrome 3 1 0 0 0 0 4
Atypical hemolytic-uremic syndrome 1 0 0 0 1 0 2
Focal segmental glomerulosclerosis 1 0 0 0 1 0 2
Hearing impairment 0 1 1 0 0 0 2
Nonsyndromic genetic hearing loss 0 0 2 0 0 0 2
Disease of glomerular basement membrane 0 1 0 0 0 0 1
Downslanted palpebral fissures; Proteinuria; Kidney damage; Hematuria 1 0 0 0 0 0 1
Familial hematuria 0 1 0 0 0 0 1
Hearing impairment; Proteinuria; Hematuria 0 0 1 0 0 0 1
Hematuria 1 0 0 0 0 0 1
Hematuria; Microscopic hematuria 0 1 0 0 0 0 1
Isolated macular dystrophy 1 0 0 0 0 0 1
Microscopic hematuria; Elevated mean arterial pressure; Chronic kidney disease 1 0 0 0 0 0 1
Mild proteinuria; Glomerulopathy; Hypertensive disorder 1 0 0 0 0 0 1
Phelan-McDermid syndrome 0 0 1 0 0 0 1
Proteinuria; Hematuria 0 1 0 0 0 0 1
Rare disease with thoracic aortic aneurysm and aortic dissection 0 0 1 0 0 0 1
Rare genetic deafness 0 1 0 0 0 0 1
Steroid-resistant nephrotic syndrome 0 1 0 0 0 0 1
Unilateral deafness; Microscopic hematuria; Mild proteinuria 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 121
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 387 250 227 828 169 0 1861
Fulgent Genetics, Fulgent Genetics 88 163 111 42 2 0 406
GeneDx 58 10 73 75 58 0 274
PreventionGenetics, part of Exact Sciences 18 25 18 36 13 0 110
Natera, Inc. 6 1 14 55 16 0 92
Ambry Genetics 8 4 69 10 0 0 91
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 18 35 16 7 0 86
Athena Diagnostics 45 12 19 1 8 0 85
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 35 32 16 1 0 0 84
Myriad Genetics, Inc. 0 70 0 0 0 0 70
MVZ Medizinische Genetik Mainz 25 25 15 0 0 0 65
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 43 15 6 0 0 0 64
CeGaT Center for Human Genetics Tuebingen 14 14 6 20 1 0 55
3billion 8 36 11 0 0 0 55
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 37 14 0 0 0 0 51
Precision Medicine Center, Zhengzhou University 22 18 4 0 0 0 44
Sydney Genome Diagnostics, Children's Hospital Westmead 25 12 6 0 0 0 43
Breakthrough Genomics, Breakthrough Genomics 0 1 0 14 28 0 43
Gharavi Laboratory, Columbia University 15 18 8 0 0 0 41
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 5 10 3 2 14 0 34
Molecular Biology Laboratory, Fundació Puigvert 15 13 0 0 0 0 28
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 2 8 13 0 24
Institute of Human Genetics, Cologne University 5 12 2 0 0 0 19
Mendelics 6 4 4 0 4 0 18
Neuberg Centre For Genomic Medicine, NCGM 4 9 4 0 0 0 17
Mayo Clinic Laboratories, Mayo Clinic 8 6 2 0 0 0 16
Genome-Nilou Lab 0 2 1 6 7 0 16
OMIM 15 0 0 0 0 0 15
Revvity Omics, Revvity 5 5 5 0 0 0 15
Eurofins Ntd Llc (ga) 1 1 7 1 5 0 15
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 7 4 0 0 0 15
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 9 4 1 0 0 0 14
Juno Genomics, Hangzhou Juno Genomics, Inc 3 5 4 0 0 0 12
Baylor Genetics 5 0 6 0 0 0 11
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 2 3 1 5 0 11
Centogene AG - the Rare Disease Company 3 3 4 0 1 0 11
Medical Genetics, University of Parma 2 7 2 0 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 4 2 5 0 0 0 11
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 2 2 0 0 0 9
Genetic Diagnostic Laboratory, University of Szeged 7 1 0 0 0 0 8
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 0 4 2 0 8
Yale Center for Mendelian Genomics, Yale University 4 4 0 0 0 0 8
Clinical Genetics Laboratory, Skane University Hospital Lund 0 6 2 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 4 1 0 0 0 8
MGZ Medical Genetics Center 1 4 2 0 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 2 3 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 3 2 0 1 1 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 4 0 0 0 0 6
Molecular Genetics, Royal Melbourne Hospital 0 4 2 0 0 0 6
Eurofins-Biomnis 3 3 0 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 5 0 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 1 0 0 0 0 5
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 2 0 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 3 2 0 0 0 0 5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 2 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 1 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 0 0 4
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 3 0 0 0 0 4
Prenatal Diagnosis Center, Inner Mongolia Medical University 4 0 0 0 0 0 4
Counsyl 0 1 2 0 0 0 3
GeneReviews 1 0 0 0 0 2 3
Illumina Laboratory Services, Illumina 0 2 1 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 0 0 3
Molecular Medicine Center, Medical University of Sofia 2 1 0 0 0 0 3
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 2 1 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 1 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 0 1 0 0 0 3
INGEBI, INGEBI / CONICET 1 0 2 0 0 0 3
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 3 0 3
Medical Genetics Department, Charles Nicolle Hospital Tunis 0 3 0 0 0 0 3
MVZ Dr. Eberhard & Partner Dortmund 1 1 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 1 0 0 0 2
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 0 1 0 0 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 1 1 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 2 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 0 0 0 2
Institute of Clinical Laboratory Science, Nanjing University Affiliated Jinling Hospital 2 0 0 0 0 0 2
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 1 1 0 0 0 2
Suma Genomics 1 1 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 2 0 0 0 0 2
Watson Genetic Lab 2 0 0 0 0 0 2
Department of Clinical Genetics, Medical University of Lodz 1 0 0 1 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Institute for Ophthalmic Research 1 0 0 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 1 0 0 0 0 0 1
King Laboratory, University of Washington 1 0 0 0 0 0 1
CGC Genetics, Unilabs 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Dhiti Omics Technologies Pvt. Ltd. 0 1 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Medicine Research Center, University of Cyprus 0 1 0 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Department of Laboratory Medicine, Soonchunhyang University Seoul Hospital 0 1 0 0 0 0 1
Genesis Genoma Lab, Genesis Genoma Lab 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 1
Department of Pediatric Nephrology, Wuhan Children's Hospital 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
DBGen Ocular Genomics 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 1
Department of Nephropathy, Central South University Xiangya School of Medicine Affiliated Haikou Hospital 1 0 0 0 0 0 1
Nephrology Department, Xi'an Children's Hospital 1 0 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
General Medicine, Assam Medical College and Hospital 0 0 1 0 0 0 1
Institute of Rare Diseases, West China Hospital, Sichuan University 1 0 0 0 0 0 1

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