ClinVar Miner

Variants studied for Alport syndrome 3, autosomal dominant

Coded as:
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
50 62 81 12 7 1 207

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects total
COL4A3, MFF-DT 31 38 48 12 7 1 131
COL4A4 18 24 33 0 0 0 75
COL4A3 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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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
Natera, Inc. 0 0 4 11 1 0 16
Nilou-Genome Lab 0 0 9 0 6 0 15
Molecular Biology Laboratory, Fundació Puigvert 2 7 1 0 0 0 10
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 3 2 2 0 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 3 0 0 0 6
Institute of Human Genetics,Cologne University 0 5 0 0 0 0 5
Baylor Genetics 1 0 3 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 0 3 0 0 0 4
Fundacion Rioja Salud,Center for Biomedical Research (CIBIR) 3 0 0 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 2 0 0 0 3
Precision Medicine Center,Zhengzhou University 1 2 0 0 0 0 3
OMIM 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 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
(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

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