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
39 120 75 16 5 249

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 13 55 41 15 4 127
COL4A3, MFF-DT 22 63 33 1 1 115
COL4A3 4 2 1 0 0 7

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 15 102 67 16 0 200
Institute of Human Genetics,Klinikum rechts der Isar 9 6 0 0 0 15
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
Integrated Genetics/Laboratory Corporation of America 3 1 0 0 0 4
Institute of Human Genetics,Cologne University 2 0 1 0 0 3
Molecular Diagnostics Laboratory,M Health: 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
Division of Nephrology,Beth Israel Deaconess Medical Center 0 2 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences (IUMS) 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1

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