ClinVar Miner

Variants studied for autosomal dominant Alport syndrome

Included ClinVar conditions (4):
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 total
83 137 139 64 13 1 424

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects total
COL4A3, MFF-DT 56 104 100 60 13 1 321
COL4A4 23 32 35 0 0 0 90
COL4A3, LOC129935730 1 0 3 4 0 0 8
COL4A5 3 1 0 0 0 0 4
COL4A3, COL4A4 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects total
Fulgent Genetics, Fulgent Genetics 22 36 49 52 0 0 159
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 36 43 52 1 0 0 132
Medizinische Genetik Mainz, Limbach Genetics GmbH 4 11 2 0 0 0 17
Natera, Inc. 0 0 4 11 1 0 16
Genome-Nilou Lab 0 0 9 0 6 0 15
Medical Genetics, University of Parma 2 6 3 0 0 0 11
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 9 0 0 0 0 10
Molecular Biology Laboratory, Fundació Puigvert 2 7 1 0 0 0 10
Athena Diagnostics Inc 0 0 0 0 8 0 8
Centogene AG - the Rare Disease Company 0 0 7 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 2 2 0 0 0 7
Institute of Human Genetics, Cologne University 0 6 0 0 0 0 6
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 2 2 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 3 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 0 1 4 0 0 0 5
Yale Center for Mendelian Genomics, Yale University 3 2 0 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 0 0 5 0 0 0 5
Baylor Genetics 1 0 3 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 1 2 1 0 0 0 4
Fundacion Rioja Salud, Center for Biomedical Research (CIBIR) 3 0 0 0 0 0 3
3billion 0 2 1 0 0 0 3
Precision Medicine Center, Zhengzhou University 1 2 0 0 0 0 3
OMIM 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 0 0 0 2
INGEBI, INGEBI / CONICET 1 0 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Zhipeng Lab, Tongji Hospital 1 0 0 0 0 1 2
Centro de Bioquimica y Genetica Clinica, Servicio Murciano de Salud 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Santos-Cortez Lab, University of Colorado School of Medicine 0 1 0 0 0 0 1
Renal Department, Renmin Hospital of Wuhan University 1 0 0 0 0 0 1
University of Iowa Renal Genetics Clinic, University of Iowa 0 1 0 0 0 0 1
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 1 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 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 0 1
Eurofins-Biomnis 0 1 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 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.