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
98 166 146 66 13 1 471

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects total
COL4A3, MFF-DT 70 131 107 62 13 1 365
COL4A4 24 33 35 0 0 0 92
COL4A3, LOC129935730 1 0 3 4 0 0 8
COL4A5 3 1 0 0 0 0 4
COL4A3 0 1 0 0 0 0 1
COL4A3, COL4A4 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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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
MVZ Medizinische Genetik Mainz 10 34 9 0 0 0 53
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
Institute of Human Genetics, University of Leipzig Medical Center 0 5 3 1 0 0 9
Athena Diagnostics 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
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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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
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
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
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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