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 total
54 70 76 12 9 214

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
COL4A3, MFF-DT 35 42 41 12 9 132
COL4A4 18 28 35 0 0 81
COL4A3 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 36 43 52 1 0 132
Natera, Inc. 0 0 4 11 1 16
Medical Genetics, University of Parma 2 6 3 0 0 11
Molecular Biology Laboratory, Fundació Puigvert 3 7 0 0 0 10
Athena Diagnostics Inc 0 0 0 0 8 8
Fulgent Genetics,Fulgent Genetics 3 1 4 0 0 8
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 3 2 2 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 3 0 0 6
Institute of Human Genetics,Cologne University 0 5 0 0 0 5
Baylor Genetics 1 0 3 0 0 4
Fundacion Rioja Salud,Center for Biomedical Research (CIBIR) 3 0 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 2 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 3
Precision Medicine Center,Zhengzhou University 1 2 0 0 0 3
OMIM 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1
Santos-Cortez Lab,University of Colorado School of Medicine 0 1 0 0 0 1
Renal Department,Renmin Hospital of Wuhan University 1 0 0 0 0 1
University of Iowa Renal Genetics Clinic,University of Iowa 0 1 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 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.