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
496 927 809 317 187 1 6 2527

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 92 258 372 119 83 0 2 855
COL4A5 297 359 120 87 30 0 4 844
COL4A3, MFF-DT 104 305 297 106 72 1 0 794
COL4A3, LOC129935730 2 2 11 4 2 0 0 20
COL4A3 1 1 4 0 0 0 0 6
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: 116
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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 1 3 317 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
MVZ Medizinische Genetik Mainz 40 83 28 0 0 0 0 151
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 31 40 0 0 0 0 0 71
Molecular Biology Laboratory, Fundació Puigvert 29 38 1 0 0 0 0 68
3billion 13 33 22 0 0 0 0 68
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 42 18 7 0 0 0 0 67
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
Medical Genetics, University of Parma 4 20 10 0 0 0 0 34
Molecular Genetics, Royal Melbourne Hospital 5 12 9 0 2 0 0 28
OMIM 27 0 0 0 0 0 0 27
Baylor Genetics 10 1 16 0 0 0 0 27
Institute of Human Genetics, Cologne University 6 18 3 0 0 0 0 27
Centogene AG - the Rare Disease Company 6 5 15 0 1 0 0 27
Neuberg Centre For Genomic Medicine, NCGM 5 10 12 0 0 0 0 27
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 4 2 2 12 0 0 24
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 6 8 9 1 0 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 8 10 1 0 0 0 22
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 7 2 0 0 0 0 14
Athena Diagnostics 0 0 0 0 12 0 0 12
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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 6 0 0 0 0 0 6
Laboratory of Prof. Karen Avraham, Tel Aviv University 5 1 0 0 0 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 5 0 1 0 0 0 0 6
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
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
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
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
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 3 0 0 1 0 0 0 4
GeneReviews 1 0 0 0 0 0 2 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 2 0 0 0 0 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
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
Department of Human Genetics, Hannover Medical School 0 2 1 0 0 0 0 3
Watson Genetic Lab 3 0 0 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
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 1 0 0 0 0 0 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, 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
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 1 0 0 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
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
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 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 Laboratory, 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
Palindrome, Gene Kavoshgaran Aria 1 0 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
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 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
General Medicine, Assam Medical College and Hospital 0 0 1 0 0 0 0 1

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