ClinVar Miner

Variants studied for X-linked Alport syndrome

Included ClinVar conditions (2):
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
808 59 197 50 52 1 1155

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 not provided total
COL4A5 804 56 33 5 20 1 907
COL4A4 0 0 100 22 18 0 140
COL4A3, MFF-DT 0 1 59 23 14 0 97
COL4A3 0 0 5 0 0 0 5
COL4A5, COL4A6 4 1 0 0 0 0 5
ATG4A, COL4A5, COL4A6 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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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
Illumina Clinical Services Laboratory,Illumina 0 0 163 45 32 0 240
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
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 4 1 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
Baylor Genetics 2 0 0 0 0 0 2
Molecular Medicine Center, Medical University of Sofia 2 0 0 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 0 2 0 0 0 0 2
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
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

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