ClinVar Miner

Variants studied for Alport syndrome

Included ClinVar conditions (6):
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
886 227 320 67 62 1 1520

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 28 76 170 37 22 0 324
COL4A3, MFF-DT 44 91 111 25 20 0 269
COL4A3 6 2 6 0 0 0 14
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: 36
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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 70 78 69 2 0 0 217
Counsyl 15 103 69 16 0 0 203
Institute of Human Genetics,Klinikum rechts der Isar 43 11 0 0 0 0 54
OMIM 27 0 0 0 0 0 27
Mendelics 3 4 7 0 5 0 19
Athena Diagnostics Inc 0 0 0 0 15 0 15
Institute of Human Genetics,Cologne University 4 8 2 0 0 0 14
Fulgent Genetics,Fulgent Genetics 5 2 4 0 0 0 11
Genetic Diagnostic Laboratory,University of Szeged 9 1 0 0 0 0 10
Molecular Diagnostics Laboratory, M Health: University of Minnesota 3 5 0 0 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 2 0 0 3 0 7
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 4 3 0 0 0 0 7
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 3 0 0 0 0 6
Integrated Genetics/Laboratory Corporation of America 3 1 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 3 0 0 0 0 4
GeneReviews 3 0 0 0 0 0 3
Fundacion Rioja Salud,Center for Biomedical Research (CIBIR) 3 0 0 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 2 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
SIB Swiss Institute of Bioinformatics 0 0 2 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 0 2 0 0 0 0 2
Division of Nephrology,Beth Israel Deaconess Medical Center 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Dhiti Omics Technologies Pvt. Ltd. 0 1 0 0 0 0 1
IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences (IUMS) 1 0 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
Santos-Cortez Lab,University of Colorado School of Medicine 0 1 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
Renal Department,Renmin Hospital of Wuhan University 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 0 0 1 0 0 0 1

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