ClinVar Miner

Variants studied for Alport syndrome

Included ClinVar conditions (10):
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 affects not provided total
425 839 778 314 187 1 6 2350

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
COL4A4 81 232 366 118 83 0 2 810
COL4A5 255 327 103 87 30 0 4 761
COL4A3, MFF-DT 86 276 290 104 72 1 0 747
COL4A3, LOC129935730 2 2 11 4 2 0 0 20
COL4A3 1 0 3 0 0 0 0 4
ATG4A, COL4A5, COL4A6, LOC126863300 0 1 0 0 0 0 0 1
CLDN14 0 0 1 0 0 0 0 1
COL4A3, COL4A4 0 0 1 0 0 0 0 1
COL4A5, COL4A6, LOC126863301 0 1 0 0 0 0 0 1
FN1 0 0 1 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: 108
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Fulgent Genetics, Fulgent Genetics 92 119 124 138 4 0 0 477
Illumina Laboratory Services, Illumina 0 3 318 44 81 0 0 446
Natera, Inc. 26 10 171 123 95 0 0 425
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 74 83 71 2 0 0 0 228
Myriad Genetics, Inc. 1 220 5 0 0 0 0 226
Counsyl 13 101 68 16 0 0 0 198
Genome-Nilou Lab 0 4 16 19 71 0 0 110
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 50 33 0 0 0 0 0 83
Molecular Biology Laboratory, Fundació Puigvert 29 38 1 0 0 0 0 68
3billion 13 31 24 0 0 0 0 68
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 26 32 0 0 0 0 0 58
Sydney Genome Diagnostics, Children's Hospital Westmead 28 16 9 0 0 0 0 53
Medizinische Genetik Mainz, Limbach Genetics GmbH 13 23 8 0 0 0 0 44
Precision Medicine Center, Zhengzhou University 16 21 5 0 0 0 0 42
Medical Genetics, University of Parma 4 20 10 0 0 0 0 34
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 16 12 3 0 0 0 0 31
Molecular Genetics, Royal Melbourne Hospital 5 12 9 0 2 0 0 28
OMIM 27 0 0 0 0 0 0 27
Centogene AG - the Rare Disease Company 6 5 15 0 1 0 0 27
Institute of Human Genetics, Cologne University 6 17 3 0 0 0 0 26
Baylor Genetics 8 1 16 0 0 0 0 25
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 4 2 2 12 0 0 24
Mendelics 7 4 6 0 6 0 0 23
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 9 9 4 0 0 0 0 22
Institute of Human Genetics, University of Leipzig Medical Center 3 4 11 0 0 0 0 18
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 7 7 0 0 0 0 18
Neuberg Centre For Genomic Medicine, NCGM 4 8 6 0 0 0 0 18
Revvity Omics, Revvity 5 5 5 0 0 0 0 15
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
Athena Diagnostics Inc 0 0 0 0 12 0 0 12
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 4 2 0 0 0 0 11
MGZ Medical Genetics Center 2 5 3 0 0 0 0 10
Genetic Diagnostic Laboratory, University of Szeged 9 1 0 0 0 0 0 10
Genetics and Molecular Pathology, SA Pathology 3 3 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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 5 0 0 0 0 0 8
Johns Hopkins Genomics, Johns Hopkins University 2 0 6 0 0 0 0 8
Yale Center for Mendelian Genomics, Yale University 4 2 0 0 0 0 0 6
Medical Genetics Department, Charles Nicolle Hospital Tunis 0 6 0 0 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 5 0 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 4 0 0 0 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 1 1 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 3 0 0 0 0 0 4
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 3 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 1 0 0 0 0 4
Prenatal Diagnosis Center, Inner Mongolia Medical University 4 0 0 0 0 0 0 4
GeneReviews 1 0 0 0 0 0 2 3
Fundacion Rioja Salud, Center for Biomedical Research (CIBIR) 3 0 0 0 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 2 0 0 0 0 3
Molecular Medicine Center, Medical University of Sofia 2 1 0 0 0 0 0 3
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 2 1 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 0 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
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 1 0 2 0 0 0 0 3
MVZ Dr. Eberhard & Partner Dortmund 0 1 1 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 1 0 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 0 2
SIB Swiss Institute of Bioinformatics 0 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Cavalleri Lab, Royal College of Surgeons in Ireland 2 0 0 0 0 0 0 2
Division of Nephrology, Beth Israel Deaconess Medical Center 0 2 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 0 2
Institute of Clinical Laboratory Science, Nanjing University Affiliated Jinling Hospital 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 2 2
Suma Genomics 1 1 0 0 0 0 0 2
DASA 1 1 0 0 0 0 0 2
Zhipeng Lab, Tongji Hospital 1 0 0 0 0 1 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 0 2
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 2 0 0 0 0 0 0 2
Centro de Bioquimica y Genetica Clinica, Servicio Murciano de Salud 2 0 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 0 1
King Laboratory, University of Washington 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 1
Dhiti Omics Technologies Pvt. Ltd. 0 1 0 0 0 0 0 1
IUMS Hospital Medical Genetics Lab, Iran University of Medical Sciences 1 0 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 0 1 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 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
Santos-Cortez Lab, University of Colorado School of Medicine 0 1 0 0 0 0 0 1
HSP Biomedical Diagnostics Department, Hospital San Pedro 0 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 0 1
Renal Department, Renmin Hospital of Wuhan University 1 0 0 0 0 0 0 1
Department of Laboratory Medicine, Soonchunhyang University Seoul Hospital 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
Genesis Genoma Lab, Genesis Genoma Lab 0 1 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 1
New York Genome Center 0 1 0 0 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 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 0 1
Pars Genome Lab 0 0 0 1 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
Department of Pediatric Nephrology, Wuhan Children's Hospital 1 0 0 0 0 0 0 1
DBGen Ocular Genomics 1 0 0 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 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
H. Huang Group, Central South University 1 0 0 0 0 0 0 1
Nephrology Department, Xi'an Children's Hospital 1 0 0 0 0 0 0 1
Watson Genetic Lab 1 0 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

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