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
31 114 69 16 4 230

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 12 53 39 15 4 122
COL4A3, LOC654841 16 59 29 1 0 102
COL4A3 3 2 1 0 0 6

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 14 102 65 16 0 197
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 6 3 0 0 11
OMIM 10 0 0 0 0 10
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 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
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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