ClinVar Miner

Variants in gene COL4A4

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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
417 793 1295 1580 255 42 3766

Condition and significance breakdown #

Total conditions: 57
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 300 184 626 1512 248 0 2673
Alport syndrome 61 275 327 65 60 0 740
Autosomal recessive Alport syndrome; Hematuria, benign familial, 1 50 249 209 5 0 0 510
Autosomal recessive Alport syndrome 81 232 110 17 35 1 456
not specified 0 0 124 65 69 0 248
Inborn genetic diseases 8 8 181 14 0 0 211
Autosomal recessive Alport syndrome; Benign familial hematuria 11 27 42 48 2 0 130
COL4A4-related disorder 18 28 38 38 7 0 129
Autosomal dominant Alport syndrome 26 28 35 0 0 0 89
Benign familial hematuria 17 31 17 0 0 1 63
Hematuria, benign familial, 1 9 18 7 0 0 0 33
Hematuria 10 16 2 0 0 0 28
Kidney disorder 0 2 5 9 4 0 20
Focal segmental glomerulosclerosis 3 2 0 0 10 0 15
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 14 14
Autosomal dominant Alport syndrome; Benign familial hematuria 0 4 2 0 0 0 6
Gastric cancer 0 0 0 0 0 6 6
Nonpapillary renal cell carcinoma 0 0 0 0 0 5 5
Glomerulonephritis 1 1 2 0 0 0 4
Meniere disease 0 0 4 0 0 0 4
Nephrotic syndrome 0 4 0 0 0 0 4
Ovarian serous cystadenocarcinoma 0 0 0 0 0 4 4
Papillary renal cell carcinoma type 1 0 0 0 0 0 4 4
Atypical hemolytic-uremic syndrome 0 0 0 0 3 0 3
Cervical cancer 0 0 0 0 0 3 3
Chronic kidney disease 2 1 0 0 0 0 3
Disease of glomerular basement membrane 3 0 0 0 0 0 3
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 3 3
Microscopic hematuria 0 0 3 0 0 0 3
Uterine corpus endometrial carcinoma 0 0 0 0 0 3 3
Cholangiocarcinoma 0 0 0 0 0 2 2
Familial cancer of breast 0 0 0 0 0 2 2
Hearing impairment; Myopia; Proteinuria; Hematuria; Hypertensive disorder 0 2 0 0 0 0 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
Pancreatic adenocarcinoma 0 0 0 0 0 2 2
Sarcoma 0 0 0 0 0 2 2
Stage 5 chronic kidney disease; Hyperkalemia; Thrombocytopenia; Hypertensive disorder 0 0 2 0 0 0 2
Thymoma 0 0 0 0 0 2 2
X-linked Alport syndrome 0 0 1 0 1 0 2
Acute myeloid leukemia 0 0 0 0 0 1 1
Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome 0 1 0 0 0 0 1
Autosomal dominant COL4A4-related disorders 0 1 0 0 0 0 1
Autosomal recessive Alport syndrome; Alport syndrome 0 0 0 0 0 1 1
Autosomal recessive Alport syndrome; Focal segmental glomerulosclerosis; Hematuria, benign familial, 1 0 0 1 0 0 0 1
Brain small vessel disease 2A, autosomal dominant 0 0 1 0 0 0 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Collagen IV-related nephropathies 0 1 0 0 0 0 1
Diffuse mesangial sclerosis 0 1 0 0 0 0 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Hearing impairment 0 0 1 0 0 0 1
Kidney damage 1 0 0 0 0 0 1
Lung cancer 0 0 0 0 0 1 1
Polycystic kidney disease 1 0 0 0 0 0 1
See cases 0 0 1 0 0 0 1
Specific language impairment 5 1 0 0 0 0 0 1
Steroid-resistant nephrotic syndrome 0 0 1 0 0 0 1
Usher syndrome 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 125
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 274 103 416 1363 98 0 2254
Fulgent Genetics, Fulgent Genetics 60 262 246 53 2 0 622
GeneDx 20 30 224 144 199 0 617
Natera, Inc. 26 236 151 35 49 0 497
Illumina Laboratory Services, Illumina 0 1 173 31 35 0 240
Ambry Genetics 8 8 181 14 0 0 211
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 14 11 105 35 17 0 182
PreventionGenetics, part of Exact Sciences 18 27 38 46 35 0 164
Breakthrough Genomics, Breakthrough Genomics 0 0 7 45 93 0 145
Counsyl 3 47 39 15 0 0 104
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 41 39 20 0 0 0 100
Myriad Genetics, Inc. 3 84 1 0 0 0 88
Athena Diagnostics 10 17 14 6 39 0 86
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 20 28 33 0 0 0 81
3billion 18 27 32 0 0 0 77
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 13 15 39 0 67
CeGaT Center for Human Genetics Tuebingen 11 8 15 25 7 0 66
Mayo Clinic Laboratories, Mayo Clinic 6 8 10 3 35 0 62
MVZ Medizinische Genetik Mainz 13 33 8 0 0 0 54
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 39 39
Genome-Nilou Lab 0 0 3 1 31 0 35
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 1 5 9 17 0 32
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 4 1 17 7 0 31
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 28 0 28
Gharavi Laboratory, Columbia University 10 16 1 0 0 0 27
Revvity Omics, Revvity 6 9 12 0 0 0 27
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 10 13 2 0 0 0 25
Molecular Genetics, Royal Melbourne Hospital 7 11 6 0 1 0 25
Molecular Biology Laboratory, Fundació Puigvert 11 12 0 0 0 0 23
Genome Diagnostics Laboratory, University Medical Center Utrecht 3 1 0 5 13 0 22
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 8 6 2 0 0 19
Institute of Human Genetics Munich, TUM University Hospital 5 13 0 0 0 0 18
Eurofins Ntd Llc (ga) 0 0 13 1 3 0 17
Juno Genomics, Hangzhou Juno Genomics, Inc 3 9 5 0 0 0 17
Sydney Genome Diagnostics, Children's Hospital Westmead 4 9 3 0 0 0 16
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 5 1 2 5 0 14
Institute of Human Genetics, Cologne University 1 10 3 0 0 0 14
Baylor Genetics 3 1 8 0 0 0 12
Medical Genetics, University of Parma 0 6 6 0 0 0 12
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 7 2 1 0 11
Institute of Human Genetics, University of Leipzig Medical Center 2 4 5 0 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 6 2 0 10
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 4 4 0 0 0 9
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 3 4 0 0 0 8
First Genomix Gene Laboratory, Genetic Diagnostics Department 3 5 0 0 0 0 8
Mendelics 3 1 3 0 1 0 8
OMIM 8 0 0 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 4 0 0 0 7
Genetic Services Laboratory, University of Chicago 1 1 4 0 0 0 6
Genetics laboratory, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 1 2 3 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 3 2 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 3 3 0 0 0 6
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 3 2 0 5
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 3 0 0 0 4
Center for Computational Biology & Bioinformatics, University of California, San Diego 0 0 4 0 0 0 4
Department of Clinical Genetics, Medical University of Lodz 1 3 0 0 0 0 4
Department of Human Genetics, Hannover Medical School 3 0 1 0 0 0 4
Eurofins-Biomnis 2 2 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 1 0 0 0 4
MVZ Martinsried, Medicover Genetics 1 3 0 0 0 0 4
Precision Medicine Center, Zhengzhou University 0 2 2 0 0 0 4
Yale Center for Mendelian Genomics, Yale University 4 1 0 0 0 0 4
Cavalleri Lab, Royal College of Surgeons in Ireland 2 1 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 2 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 3
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 2 0 0 0 0 3
Genetic Diagnostic Laboratory, University of Szeged 3 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 1 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 2 0 0 0 3
MVZ Dr. Eberhard & Partner Dortmund 0 1 2 0 0 0 3
Molecular Lab, University of Sulaimaniyah 3 0 0 0 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 2 0 0 0 3
Centro de Bioquimica y Genetica Clinica, Servicio Murciano de Salud 2 0 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 2 0 0 0 0 2
Dasa 1 1 0 0 0 0 2
Division of Nephrology, Beth Israel Deaconess Medical Center 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 1 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 2 0 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 0 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Renal Department, Renmin Hospital of Wuhan University 1 1 0 0 0 0 2
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada) 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Biochemistry Department, Nishtar Medical University 1 0 0 0 0 0 1
CGC Genetics, Unilabs 0 1 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 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 Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 0 1 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Department of Nephrology, Rheumatology and Immunology, Shanghai Children's Hospital 0 0 1 0 0 0 1
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 0 1 0 0 0 1
Department of Pediatric Cardiology, Nephrology and Rheumatology, The Affiliated Hospital of Qingdao University 0 0 0 0 0 1 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 0 1 0 0 0 0 1
Division of Nephrology, Li Ka Shing Institute of Health Sciences, Chinese University of Hong Kong 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Genetics Department, Catlab 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 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
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
H. Huang Group, Central South University 1 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Laboratory for Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana 1 0 0 0 0 0 1
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 0 1 0 0 0 0 1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 1 0 0 0 0 1
Watson Genetic Lab 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1

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