ClinVar Miner

Variants studied for Alport syndrome, autosomal 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
46 178 85 16 5 321

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 total
COL4A4 15 76 49 15 4 158
COL4A3, MFF-DT 26 100 35 1 1 155
COL4A3 5 2 1 0 0 8

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 15 102 67 16 0 200
Myriad Women's Health, Inc. 0 45 0 0 0 45
Institute of Human Genetics,Klinikum rechts der Isar 11 8 0 0 0 19
Integrated Genetics/Laboratory Corporation of America 9 4 0 0 0 13
Medical Genetics, University of Parma 0 7 6 0 0 13
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 6 3 0 0 11
OMIM 10 0 0 0 0 10
Mendelics 0 0 4 0 1 5
Athena Diagnostics Inc 0 0 0 0 4 4
Institute of Human Genetics,Cologne University 2 0 1 0 0 3
Centogene AG - the Rare Disease Company 2 1 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 2 1 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 3 0 0 0 3
Fulgent Genetics,Fulgent Genetics 1 1 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 2 0 0 0 2
Genetic Diagnostic Laboratory,University of Szeged 2 0 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 2 0 0 0 0 2
Division of Nephrology,Beth Israel Deaconess Medical Center 0 2 0 0 0 2
Laboratory for Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana 2 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1

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