ClinVar Miner

Variants studied for Alport syndrome 1, X-linked recessive

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 total
767 32 24 4 19 842

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
COL4A5 764 30 24 4 19 837
COL4A5, COL4A6 4 1 0 0 0 5
ATG4A, COL4A5, COL4A6 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
ARUP Institute,ARUP Laboratories 739 3 13 4 19 778
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 17 19 10 0 0 46
OMIM 15 0 0 0 0 15
Genetic Diagnostic Laboratory,University of Szeged 7 1 0 0 0 8
Molecular Diagnostics Laboratory,M Health: University of Minnesota 3 2 0 0 0 5
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 1 0 0 0 4
Institute of Human Genetics,Cologne University 1 1 1 0 0 3
GeneReviews 3 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 3 0 0 0 3
Baylor Miraca Genetics Laboratories, 2 0 0 0 0 2
Fulgent Genetics 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Dhiti Omics Technologies Pvt. Ltd. 0 1 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 1 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 1
Department of Laboratory Medicine,Soonchunhyang University Seoul Hospital 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.