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 not provided total
59 204 106 30 68 1 455

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 not provided total
COL4A4 28 88 58 16 35 1 224
COL4A3, MFF-DT 26 114 47 14 33 0 223
COL4A3 5 2 1 0 0 0 8

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 15 102 67 16 0 0 200
Nilou-Genome Lab 0 2 14 13 64 0 93
Myriad Women's Health, Inc. 0 45 0 0 0 0 45
Molecular Biology Laboratory, Fundació Puigvert 12 18 0 0 0 0 30
Institute of Human Genetics, Klinikum rechts der Isar 11 8 0 0 0 0 19
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 7 0 0 0 0 17
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 8 3 0 0 0 14
Medical Genetics, University of Parma 0 7 6 0 0 0 13
OMIM 10 0 0 0 0 0 10
Baylor Genetics 2 0 7 0 0 0 9
Precision Medicine Center,Zhengzhou University 0 6 2 0 0 0 8
Mendelics 0 0 4 0 1 0 5
Athena Diagnostics Inc 0 0 0 0 4 0 4
Institute of Human Genetics,Cologne University 2 1 1 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 3 0 0 0 4
Centogene AG - the Rare Disease Company 2 1 0 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 2 1 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 3 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 1 1 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 2 0 0 0 0 2
Genetic Diagnostic Laboratory,University of Szeged 2 0 0 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 2 0 0 0 0 0 2
Division of Nephrology,Beth Israel Deaconess Medical Center 0 2 0 0 0 0 2
Laboratory for Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana 2 0 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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