ClinVar Miner

Variants studied for Autosomal dominant Alport syndrome

Coded as:
Minimum submission review status: Collection method:
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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
77 123 103 15 7 1 313

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects total
COL4A3, MFF-DT 50 93 70 14 7 1 222
COL4A4 24 28 33 0 0 0 85
COL4A5 3 1 0 0 0 0 4
COL4A3 0 1 0 0 0 0 1
COL4A3, LOC129935730 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects total
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 36 43 52 1 0 0 132
MVZ Medizinische Genetik Mainz 10 33 9 0 0 0 52
Natera, Inc. 0 0 4 11 1 0 16
Genome-Nilou Lab 0 0 9 0 6 0 15
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
Institute of Human Genetics, University of Leipzig Medical Center 0 5 3 1 0 0 9
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
Baylor Genetics 3 0 3 0 0 0 6
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
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
Precision Medicine Center, Zhengzhou University 1 4 0 0 0 0 5
Laboratory of Prof. Karen Avraham, Tel Aviv University 4 0 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 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
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 2 0 0 1 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
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 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
Santos-Cortez Lab, University of Colorado School of Medicine 0 1 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 1
Renal Department, Renmin Hospital of Wuhan University 1 0 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
Palindrome, Gene Kavoshgaran Aria 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 1

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