ClinVar Miner

Variants studied for Alport syndrome

Included ClinVar conditions (7):
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
963 413 562 105 133 1 2063

Gene and significance breakdown #

Total genes and gene combinations: 9
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL4A5 851 141 57 10 26 1 1053
COL4A4 46 117 286 62 52 0 535
COL4A3, MFF-DT 58 151 207 32 53 0 448
COL4A3 6 2 10 0 2 0 20
COL4A5, COL4A6 3 1 0 0 0 0 4
ATG4A, COL4A5, COL4A6 0 1 0 0 0 0 1
CLDN14 0 0 1 0 0 0 1
MSR1 0 0 0 1 0 0 1
MYO15A 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Research and Development, ARUP Laboratories 739 3 13 4 19 0 778
Illumina Clinical Services Laboratory,Illumina 0 0 315 44 81 0 440
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 74 83 71 2 0 0 228
Counsyl 15 103 69 16 0 0 203
Natera, Inc. 6 2 74 39 72 0 193
Myriad Women's Health, Inc. 0 69 0 0 0 0 69
Molecular Biology Laboratory, Fundació Puigvert 30 38 0 0 0 0 68
Institute of Human Genetics, Klinikum rechts der Isar 43 12 0 0 0 0 55
Sydney Genome Diagnostics,Children's Hospital Westmead 28 16 9 0 0 0 53
Precision Medicine Center,Zhengzhou University 16 21 5 0 0 0 42
Medical Genetics, University of Parma 4 20 10 0 0 0 34
OMIM 27 0 0 0 0 0 27
Baylor Genetics 6 0 15 0 0 0 21
Integrated Genetics/Laboratory Corporation of America 12 8 0 0 0 0 20
Mendelics 3 4 7 0 5 0 19
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 10 6 3 0 0 0 19
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 2 0 0 12 0 17
Institute of Human Genetics,Cologne University 4 9 2 0 0 0 15
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 7 4 0 0 0 14
Institute of Human Genetics, University of Leipzig Medical Center 4 1 8 0 0 0 13
Athena Diagnostics Inc 0 0 0 0 12 0 12
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 6 3 3 0 0 0 12
Fulgent Genetics,Fulgent Genetics 5 2 4 0 0 0 11
Genetic Diagnostic Laboratory,University of Szeged 9 1 0 0 0 0 10
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 5 0 0 0 0 8
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 5 1 0 0 0 7
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 3 0 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 3 0 0 0 0 4
Centogene AG - the Rare Disease Company 2 1 0 0 0 0 3
GeneReviews 3 0 0 0 0 0 3
Fundacion Rioja Salud,Center for Biomedical Research (CIBIR) 3 0 0 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 2 0 0 0 3
Molecular Medicine Center, Medical University of Sofia 2 1 0 0 0 0 3
Broad Institute Rare Disease Group, Broad Institute 0 2 0 1 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 0 2 0 0 0 3
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 1 0 2 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 2 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 2 0 0 0 0 0 2
Division of Nephrology,Beth Israel Deaconess Medical Center 0 2 0 0 0 0 2
Institute of Clinical Laboratory Science,Nanjing University Affiliated Jinling Hospital 2 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 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Dhiti Omics Technologies Pvt. Ltd. 0 1 0 0 0 0 1
IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences 1 0 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 0 0 0 0 0 1
Santos-Cortez Lab,University of Colorado School of Medicine 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
HSP Biomedical Diagnostics Department,Hospital San Pedro 0 1 0 0 0 0 1
Renal Department,Renmin Hospital of Wuhan University 1 0 0 0 0 0 1
Department of Laboratory Medicine,Soonchunhyang University Seoul Hospital 0 1 0 0 0 0 1
University of Iowa Renal Genetics Clinic,University of Iowa 0 1 0 0 0 0 1
Nilou-Genome Lab 0 0 0 1 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
Pars Genome Lab 0 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.