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 not provided total
814 70 37 5 21 1 934

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL4A5 810 68 36 5 20 1 926
COL4A5, COL4A6 4 1 0 0 0 0 5
COL4A4 0 0 1 0 1 0 2
ATG4A, COL4A5, COL4A6 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Research and Development, ARUP Laboratories 739 3 13 4 19 0 778
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 34 31 15 1 0 0 81
Institute of Human Genetics,Klinikum rechts der Isar 32 4 0 0 0 0 36
OMIM 15 0 0 0 0 0 15
Mendelics 3 4 3 0 4 0 14
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 7 4 0 0 0 0 11
Medical Genetics, University of Parma 2 7 2 0 0 0 11
Genetic Diagnostic Laboratory,University of Szeged 7 1 0 0 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 2 0 0 3 0 7
Institute of Human Genetics,Cologne University 2 3 1 0 0 0 6
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 5 0 0 0 0 0 5
Molecular Diagnostics Laboratory, M Health: University of Minnesota 3 2 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 3 0 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 1 0 0 0 0 4
Counsyl 0 1 2 0 0 0 3
GeneReviews 3 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 0 3
Baylor Genetics 2 0 0 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 0 2 0 0 0 0 2
Institute of Clinical Laboratory Science,Nanjing University Affiliated Jinling Hospital 2 0 0 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Dhiti Omics Technologies Pvt. Ltd. 0 1 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Department of Laboratory Medicine,Soonchunhyang University Seoul Hospital 0 1 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 1 0 0 0 0 0 1

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