ClinVar Miner

Variants in gene COL4A5

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
789 887 743 1017 220 348 3503

Condition and significance breakdown #

Total conditions: 51
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 510 333 346 939 215 0 2230
X-linked Alport syndrome 368 579 331 93 29 6 1315
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 196 196
Nonpapillary renal cell carcinoma 0 0 0 0 0 135 135
Inborn genetic diseases 9 4 106 13 0 0 132
not specified 0 2 51 40 22 0 113
COL4A5-related disorder 18 25 18 33 4 0 98
Alport syndrome 29 20 4 0 1 0 54
Hematuria 8 12 4 0 0 0 24
Kidney disorder 0 2 3 1 3 0 9
Acute myeloid leukemia 0 0 0 0 0 7 7
Nephrotic syndrome 1 3 2 0 0 0 6
Ovarian serous cystadenocarcinoma 0 0 0 0 0 5 5
Sarcoma 0 0 0 0 0 5 5
See cases 2 2 1 0 0 0 5
Thymoma 0 0 0 0 0 5 5
Autosomal dominant Alport syndrome 3 1 0 0 0 0 4
Familial cancer of breast 0 0 0 0 0 4 4
Lung cancer 0 0 0 0 0 4 4
Melanoma 0 0 0 0 0 4 4
Uterine carcinosarcoma 0 0 0 0 0 3 3
Uterine corpus endometrial carcinoma 0 0 0 0 0 3 3
Atypical hemolytic-uremic syndrome 1 0 0 0 1 0 2
Cervical cancer 0 0 0 0 0 2 2
Focal segmental glomerulosclerosis 1 0 0 0 1 0 2
Gastric cancer 0 0 0 0 0 2 2
Hearing impairment 0 1 1 0 0 0 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Nonsyndromic genetic hearing loss 0 0 2 0 0 0 2
Ovarian cancer 0 0 0 0 0 2 2
Squamous cell lung carcinoma 0 0 0 0 0 2 2
Alport syndrome 1 0 1 0 0 0 0 1
Colon adenocarcinoma 0 0 0 0 0 1 1
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
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Hearing impairment; Proteinuria; Hematuria 0 0 1 0 0 0 1
Hematuria; Microscopic hematuria 0 1 0 0 0 0 1
Isolated macular dystrophy 1 0 0 0 0 0 1
Malignant tumor of esophagus 0 0 0 0 0 1 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
Monogenic hearing loss 0 1 0 0 0 0 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 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: 142
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 429 264 245 849 169 0 1956
Fulgent Genetics, Fulgent Genetics 88 163 111 42 2 0 406
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 342 342
GeneDx 61 19 85 75 58 0 298
Natera, Inc. 15 49 79 55 16 0 214
Ambry Genetics 9 4 106 13 0 0 132
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 24 42 26 9 0 111
PreventionGenetics, part of Exact Sciences 18 25 18 36 13 0 110
3billion 20 52 26 0 0 0 98
Athena Diagnostics 45 12 19 1 8 0 85
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 35 32 17 1 0 0 85
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 58 18 7 0 0 0 83
MVZ Medizinische Genetik Mainz 25 32 20 0 0 0 77
Myriad Genetics, Inc. 2 73 0 0 0 0 75
CeGaT Center for Human Genetics Tuebingen 17 18 7 25 1 0 68
Institute of Human Genetics Munich, TUM University Hospital 39 13 0 0 0 0 52
Precision Medicine Center, Zhengzhou University 22 18 4 0 0 0 44
Breakthrough Genomics, Breakthrough Genomics 0 1 0 14 28 0 43
Sydney Genome Diagnostics, Children's Hospital Westmead 25 12 6 0 0 0 43
Gharavi Laboratory, Columbia University 15 18 8 0 0 0 41
Mayo Clinic Laboratories, Mayo Clinic 13 5 5 4 12 0 39
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 5 10 3 3 16 0 37
Molecular Biology Laboratory, Fundació Puigvert 15 13 0 0 0 0 28
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 7 13 4 0 0 0 24
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 2 8 13 0 24
Department of Nephrology, Rheumatology and Immunology, Shanghai Children's Hospital 0 0 23 0 0 0 23
Revvity Omics, Revvity 7 5 8 0 0 0 20
Institute of Human Genetics, Cologne University 5 12 2 0 0 0 19
Mendelics 7 4 4 0 4 0 19
MVZ Martinsried, Medicover Genetics 10 7 1 0 0 0 18
Neuberg Centre For Genomic Medicine, NCGM 4 10 4 0 0 0 18
Genome-Nilou Lab 0 2 1 6 7 0 16
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 7 4 0 0 0 15
Eurofins Ntd Llc (ga) 1 1 7 1 5 0 15
OMIM 15 0 0 0 0 0 15
Juno Genomics, Hangzhou Juno Genomics, Inc 4 5 5 0 0 0 14
Clinical Genetics Laboratory, Skane University Hospital Lund 4 7 2 0 0 0 13
Genetics laboratory, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 5 8 0 0 0 0 13
Institute of Human Genetics, University of Leipzig Medical Center 4 2 7 0 0 0 13
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 6 5 1 0 0 0 12
Baylor Genetics 5 0 6 0 0 0 11
CENTOGENE GmbH and LLC - Guiding Precision Medicine 3 3 4 0 1 0 11
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 2 3 1 5 0 11
Medical Genetics, University of Parma 2 7 2 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 4 1 0 0 0 8
Variantyx, Inc. 2 6 0 0 0 0 8
Yale Center for Mendelian Genomics, Yale University 4 4 0 0 0 0 8
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 3 2 0 1 1 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 2 3 0 7
MGZ Medical Genetics Center 1 4 2 0 0 0 7
Eurofins-Biomnis 3 3 0 0 0 0 6
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
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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 5 0 0 0 0 5
Laboratory of Genetics, Children's Clinical University Hospital Latvia 3 0 0 1 1 0 5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 2 0 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 2 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 1 0 0 0 4
Medical and Scientific Branch, Hong Kong Genome Institute 1 3 0 0 0 0 4
Prenatal Diagnosis Center, Inner Mongolia Medical University 4 0 0 0 0 0 4
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 3 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 1 0 0 0 3
CGC Genetics, Unilabs 0 3 0 0 0 0 3
Counsyl 0 1 2 0 0 0 3
Department of Human Genetics, Hannover Medical School 0 3 0 0 0 0 3
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 2 1 0 0 0 0 3
GeneReviews 1 0 0 0 0 2 3
INGEBI, INGEBI / CONICET 1 0 2 0 0 0 3
Illumina Laboratory Services, Illumina 0 2 1 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 0 1 0 0 0 3
Medical Genetics Department, Charles Nicolle Hospital Tunis 0 3 0 0 0 0 3
Molecular Medicine Center, Medical University of Sofia 2 1 0 0 0 0 3
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 3 0 3
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 1 0 1 0 0 0 2
Centre of Medical Genetics, University Hospital Muenster 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 1 1 0 0 0 0 2
Department of Clinical Genetics, Medical University of Lodz 1 0 0 1 0 0 2
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 1 1 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 2 0 0 0 0 0 2
Institute of Clinical Laboratory Science, Nanjing University Affiliated Jinling Hospital 0 0 0 0 0 2 2
Institute of Human Genetics, University of Goettingen 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
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 0 1 0 0 0 2
MVZ Dr. Eberhard & Partner Dortmund 1 1 0 0 0 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 1 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 0 0 0 2
Prenatal Diagnosis Center, The Affiliated Hospital of Qingdao University 0 2 0 0 0 0 2
Suma Genomics 1 1 0 0 0 0 2
Watson Genetic Lab 2 0 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
DBGen Ocular Genomics 1 0 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Department of Laboratory Medicine, Soonchunhyang University Seoul Hospital 0 1 0 0 0 0 1
Department of Nephrology, Hangzhou First People's Hospital Tonglu Campus 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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Department of Pediatric Nephrology, Children's Hospital Affiliated to Shandong University 0 1 0 0 0 0 1
Department of Pediatric Nephrology, Wuhan Children's Hospital 1 0 0 0 0 0 1
Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 0 1 0 0 0 0 1
Dhiti Omics Technologies Pvt. Ltd. 0 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 1
General Medicine, Assam Medical College and Hospital 0 0 1 0 0 0 1
Genesis Genoma Lab, Genesis Genoma Lab 0 1 0 0 0 0 1
Genetics Department, Catlab 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Institute of Rare Diseases, West China Hospital, Sichuan University 1 0 0 0 0 0 1
King Laboratory, University of Washington 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 1 0 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Institute for Ophthalmic Research 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
Molecular Medicine Research Center, University of Cyprus 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Nephrology Department, Xi'an Children's Hospital 1 0 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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