ClinVar Miner

Variants studied for Alport syndrome

Included ClinVar conditions (15):
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 affects not provided total
740 1960 1545 334 184 1 9 4361

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
COL4A4 173 645 634 127 80 0 2 1512
COL4A3, MFF-DT 173 711 553 108 72 1 1 1457
COL4A5 388 595 334 93 30 0 6 1350
COL4A3, LOC129935730 3 5 13 5 2 0 0 24
COL4A3 1 0 3 0 0 0 0 4
FARS2 1 0 1 0 0 0 0 2
ATG4A, COL4A5, COL4A6, LOC126863300 0 1 0 0 0 0 0 1
CACNA1D 0 0 1 0 0 0 0 1
CLDN14 0 0 1 0 0 0 0 1
COL4A3, COL4A4 0 0 1 0 0 0 0 1
COL4A3, COL4A4, LOC129935730 1 1 0 0 0 0 0 1
COL4A5, COL4A6, LOC126863301 0 1 0 0 0 0 0 1
COPA 0 0 1 0 0 0 0 1
FN1 0 0 1 0 0 0 0 1
LMX1B 0 1 0 0 0 0 0 1
MSR1 0 0 0 1 0 0 0 1
MYO15A 0 0 1 0 0 0 0 1
ZC3H12C 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 151
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Fulgent Genetics, Fulgent Genetics 199 664 561 151 4 0 0 1576
Natera, Inc. 101 542 371 127 95 0 0 1236
Illumina Laboratory Services, Illumina 1 3 300 41 78 0 0 423
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 128 97 41 0 0 0 0 266
Myriad Genetics, Inc. 8 242 3 0 0 0 0 253
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 74 83 72 2 0 0 0 229
MVZ Medizinische Genetik Mainz 51 117 49 0 0 0 0 217
3billion 46 95 74 0 0 0 0 215
Counsyl 13 101 68 16 0 0 0 198
Genome-Nilou Lab 0 4 16 19 71 0 0 110
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 49 55 0 0 0 0 0 104
Institute of Human Genetics Munich, TUM University Hospital 52 34 0 0 0 0 0 86
Molecular Biology Laboratory, Fundació Puigvert 29 38 1 0 0 0 0 68
Precision Medicine Center, Zhengzhou University 23 29 7 0 0 0 0 59
Sydney Genome Diagnostics, Children's Hospital Westmead 29 16 8 0 0 0 0 53
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 16 18 16 1 0 0 0 51
Molecular Genetics, Royal Melbourne Hospital 10 15 11 0 2 0 0 38
Genetics laboratory, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 10 16 11 0 0 0 0 37
Neuberg Centre For Genomic Medicine, NCGM 6 14 17 0 0 0 0 37
Juno Genomics, Hangzhou Juno Genomics, Inc 6 14 14 0 0 0 0 34
Medical Genetics, University of Parma 4 20 10 0 0 0 0 34
Institute of Human Genetics, Cologne University 8 21 4 0 0 0 0 33
Department of Nephrology, Rheumatology and Immunology, Shanghai Children's Hospital 0 0 31 0 0 0 0 31
MVZ Martinsried, Medicover Genetics 12 15 4 0 0 0 0 31
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 5 5 3 3 14 0 0 30
Institute of Human Genetics, University of Leipzig Medical Center 7 9 13 1 0 0 0 30
CENTOGENE GmbH and LLC - Guiding Precision Medicine 6 6 15 0 1 0 0 28
Mendelics 9 4 9 0 6 0 0 28
Baylor Genetics 10 1 16 0 0 0 0 27
OMIM 27 0 0 0 0 0 0 27
Department of Pathology and Laboratory Medicine, Sinai Health System 0 3 14 2 1 0 0 20
Revvity Omics, Revvity 7 5 8 0 0 0 0 20
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 7 5 0 0 0 0 15
Eurofins-Biomnis 6 7 2 0 0 0 0 15
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 7 2 0 0 0 0 14
Medical and Scientific Branch, Hong Kong Genome Institute 4 10 0 0 0 0 0 14
Johns Hopkins Genomics, Johns Hopkins University 2 0 8 0 1 0 0 11
First Genomix Gene Laboratory, Genetic Diagnostics Department 4 6 0 0 0 0 0 10
Genetic Diagnostic Laboratory, University of Szeged 9 1 0 0 0 0 0 10
MGZ Medical Genetics Center 2 5 3 0 0 0 0 10
Clinical Genetics Laboratory, Skane University Hospital Lund 5 4 0 0 0 0 0 9
Genetics and Molecular Pathology, SA Pathology 3 3 3 0 0 0 0 9
Laboratory of Prof. Karen Avraham, Tel Aviv University 5 1 3 0 0 0 0 9
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 6 2 0 0 0 0 9
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 5 0 0 0 0 0 8
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 6 0 2 0 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 3 2 0 0 0 0 8
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 5 0 0 0 0 0 8
Variantyx, Inc. 2 6 0 0 0 0 0 8
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 5 1 0 0 0 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 5 0 0 0 0 0 7
Clinical Genomics Laboratory, Washington University in St. Louis 0 2 4 0 0 0 0 6
Department of Human Genetics, Hannover Medical School 2 3 1 0 0 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 4 0 0 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 6 0 0 0 0 0 6
Medical Genetics Department, Charles Nicolle Hospital Tunis 0 6 0 0 0 0 0 6
Yale Center for Mendelian Genomics, Yale University 4 2 0 0 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 1 1 0 0 0 5
Athena Diagnostics 0 0 0 0 4 0 0 4
Clinical Genomics Laboratory, Stanford Medicine 1 1 2 0 0 0 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 3 1 0 0 0 0 4
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 3 1 0 0 0 0 0 4
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 3 0 0 0 0 0 4
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 3 0 0 1 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 2 0 0 0 0 4
Prenatal Diagnosis Center, Inner Mongolia Medical University 4 0 0 0 0 0 0 4
CGC Genetics, Unilabs 0 3 0 0 0 0 0 3
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 1 0 2 0 0 0 0 3
Fundacion Rioja Salud, Center for Biomedical Research (CIBIR) 3 0 0 0 0 0 0 3
GeneReviews 1 0 0 0 0 0 2 3
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 2 0 1 0 0 0 0 3
Genetics Department, Catlab 1 1 1 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
INGEBI, INGEBI / CONICET 2 0 1 0 0 0 0 3
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 3 0 0 0 0 0 3
Molecular Medicine Center, Medical University of Sofia 2 1 0 0 0 0 0 3
Prenatal Diagnosis Center, The Affiliated Hospital of Qingdao University 0 3 0 0 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 2 0 0 0 0 3
Watson Genetic Lab 3 0 0 0 0 0 0 3
Biochemistry Department, Nishtar Medical University 1 1 0 0 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 2 0 0 0 0 0 0 2
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 1 0 1 0 0 0 0 2
Centro de Bioquimica y Genetica Clinica, Servicio Murciano de Salud 2 0 0 0 0 0 0 2
Dasa 1 1 0 0 0 0 0 2
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 2 0 0 0 0 0 0 2
Department of Clinical Genetics, Medical University of Lodz 1 0 0 1 0 0 0 2
Division of Nephrology, Beth Israel Deaconess Medical Center 0 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 2 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 0 2
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 1 0 0 0 0 0 2
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 2 0 0 0 0 0 0 2
Institute of Clinical Laboratory Science, Nanjing University Affiliated Jinling Hospital 0 0 0 0 0 0 2 2
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 0 2
Institute of Rare Diseases, West China Hospital, Sichuan University 2 0 0 0 0 0 0 2
Laboratory for Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana 2 0 0 0 0 0 0 2
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez 2 0 0 0 0 0 0 2
MVZ Dr. Eberhard & Partner Dortmund 0 1 1 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 0 2
Suma Genomics 1 1 0 0 0 0 0 2
Zhipeng Lab, Tongji Hospital 1 0 0 0 0 1 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 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 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 1
Clinical Genetics and Genomics Laboratory, Noor Shahriyar Hospital 1 0 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 0 1
DBGen Ocular Genomics 1 0 0 0 0 0 0 1
Department of Laboratory Medicine, Soonchunhyang University Seoul Hospital 0 1 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 0 1 0 0 0 0 0 1
Department of Nephrology, Hangzhou First People's Hospital Tonglu Campus 0 1 0 0 0 0 0 1
Department of Nephropathy, Central South University Xiangya School of Medicine Affiliated Haikou Hospital 1 0 0 0 0 0 0 1
Department of Pediatric Nephrology, Children's Hospital Affiliated to Shandong University 0 1 0 0 0 0 0 1
Department of Pediatric Nephrology, Wuhan Children's Hospital 1 0 0 0 0 0 0 1
Dhiti Omics Technologies Pvt. Ltd. 0 1 0 0 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 0 1 0 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 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 0 1
General Medicine, Assam Medical College and Hospital 0 0 1 0 0 0 0 1
Genesis Genoma Lab, Genesis Genoma Lab 0 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
H. Huang Group, Central South University 1 0 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 0 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 0 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 0 0 1
King Laboratory, University of Washington 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 1
Laboratory of Dr. Barbara Vona, University Medical Center Göttingen 0 0 1 0 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 1 0 0 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 1 0 0 0 0 0 0 1
Nephrology Department, Xi'an Children's Hospital 1 0 0 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 1
Pars Genome Lab 0 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 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 0 0 0 0 0 1
Renal Department, Renmin Hospital of Wuhan University 1 0 0 0 0 0 0 1
Santos-Cortez Lab, University of Colorado School of Medicine 0 1 0 0 0 0 0 1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana 1 0 0 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 0 0 0 0 0 1
University of Iowa Renal Genetics Clinic, University of Iowa 0 1 0 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 1 0 0 0 0 0 1

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