ClinVar Miner

Variants in gene COL4A4

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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
290 389 768 1482 262 3 2834

Condition and significance breakdown #

Total conditions: 35
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 238 145 429 1422 249 0 2348
Alport syndrome 8 13 253 62 63 0 370
Autosomal recessive Alport syndrome 39 162 74 16 35 1 319
Autosomal recessive Alport syndrome; Benign familial hematuria 23 42 59 48 2 0 174
not specified 0 0 42 31 49 0 118
COL4A4-related condition 8 22 22 32 7 0 91
Autosomal dominant Alport syndrome 23 26 33 0 0 0 82
Benign familial hematuria 21 34 15 0 0 1 68
Inborn genetic diseases 2 1 47 2 0 0 52
Kidney disorder 0 1 5 9 4 0 19
Focal segmental glomerulosclerosis 0 2 0 0 10 0 12
Autosomal dominant Alport syndrome; Benign familial hematuria 0 4 2 0 0 0 6
Glomerulonephritis 1 1 2 0 0 0 4
Nephrotic syndrome 0 4 0 0 0 0 4
Atypical hemolytic-uremic syndrome 0 0 0 0 3 0 3
Chronic kidney disease 2 1 0 0 0 0 3
Disease of glomerular basement membrane 3 0 0 0 0 0 3
Hematuria 0 3 0 0 0 0 3
Microscopic hematuria 0 0 3 0 0 0 3
Hearing impairment; Myopia; Proteinuria; Hematuria; Hypertensive disorder 0 2 0 0 0 0 2
Stage 5 chronic kidney disease; Hyperkalemia; Thrombocytopenia; Hypertensive disorder 0 0 2 0 0 0 2
Alport syndrome type 2 0 1 0 0 0 0 1
Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome 0 1 0 0 0 0 1
Autosomal recessive Alport syndrome; Alport syndrome 0 0 0 0 0 1 1
COL4A4-related disorder 1 0 0 0 0 0 1
COL4A4-related disorders 0 1 0 0 0 0 1
Diffuse mesangial sclerosis 0 1 0 0 0 0 1
Hearing impairment 0 0 1 0 0 0 1
Kidney damage 1 0 0 0 0 0 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
X-linked Alport syndrome 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 88
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 219 90 285 1291 98 0 1983
GeneDx 9 12 135 144 199 0 499
Illumina Laboratory Services, Illumina 0 1 182 33 38 0 254
Natera, Inc. 5 5 84 32 49 0 175
Fulgent Genetics, Fulgent Genetics 24 41 59 48 2 0 174
PreventionGenetics, part of Exact Sciences 8 22 22 40 35 0 127
Counsyl 3 47 39 15 0 0 104
Athena Diagnostics Inc 9 17 15 5 39 0 85
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 20 28 33 0 0 0 81
Myriad Genetics, Inc. 1 72 2 0 0 0 75
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 13 14 39 0 66
Ambry Genetics 2 1 47 2 0 0 52
CeGaT Center for Human Genetics Tuebingen 2 5 5 17 6 0 35
Genome-Nilou Lab 0 0 3 1 31 0 35
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 3 22 5 0 0 33
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 3 1 17 7 0 30
Gharavi Laboratory, Columbia University 10 16 1 0 0 0 27
3billion 4 10 12 0 0 0 26
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
Revvity Omics, Revvity 2 8 11 0 0 0 21
Eurofins Ntd Llc (ga) 0 0 13 1 3 0 17
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 5 11 0 0 0 0 16
Sydney Genome Diagnostics, Children's Hospital Westmead 4 9 3 0 0 0 16
Molecular Genetics, Royal Melbourne Hospital 3 6 4 0 1 0 14
Baylor Genetics 3 1 8 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 2 3 0 0 0 12
Medical Genetics, University of Parma 0 6 6 0 0 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 6 2 0 10
Institute of Human Genetics, Cologne University 1 7 1 0 0 0 9
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 4 4 0 0 0 9
OMIM 8 0 0 0 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 0 2 4 0 8
Centogene AG - the Rare Disease Company 1 3 4 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 4 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 0 3 4 0 0 0 7
Mendelics 2 1 2 0 1 0 6
Mayo Clinic Laboratories, Mayo Clinic 1 1 4 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 2 0 0 0 5
Medizinische Genetik Mainz, Limbach Genetics GmbH 2 3 0 0 0 0 5
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 4 0 4
Yale Center for Mendelian Genomics, Yale University 4 1 0 0 0 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 3 1 0 0 0 4
Eurofins-Biomnis 2 2 0 0 0 0 4
MVZ Dr. Eberhard & Partner Dortmund 0 1 2 0 0 0 3
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 3 0 0 0 0 3
Genetic Diagnostic Laboratory, University of Szeged 3 0 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 2 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 3
Cavalleri Lab, Royal College of Surgeons in Ireland 2 1 0 0 0 0 3
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 2 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 1 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 1 0 0 0 2
Renal Department, Renmin Hospital of Wuhan University 1 1 0 0 0 0 2
Division of Nephrology, Beth Israel Deaconess Medical Center 0 2 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
Precision Medicine Center, Zhengzhou University 0 1 1 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Centro de Bioquimica y Genetica Clinica, Servicio Murciano de Salud 2 0 0 0 0 0 2
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 1 0 0 0 1
Institute 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
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
(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
Department of Pediatric Cardiology, Nephrology and Rheumatology, The Affiliated Hospital of Qingdao University 0 0 0 0 0 1 1
Laboratory for Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana 1 0 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 0 1 0 0 0 0 1
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
H. Huang Group, Central South University 1 0 0 0 0 0 1

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