ClinVar Miner

Variants studied for Alport syndrome 3, autosomal dominant

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
30 31 35 0 0 96

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
COL4A4 11 17 22 50
COL4A3, MFF-DT 18 14 13 45
COL4A3 1 0 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance total
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 24 27 34 85
Institute of Human Genetics,Cologne University 0 3 0 3
Fundacion Rioja Salud,Center for Biomedical Research (CIBIR) 3 0 0 3
OMIM 2 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 1 1
Santos-Cortez Lab,University of Colorado School of Medicine 0 1 0 1
Renal Department,Renmin Hospital of Wuhan University 1 0 0 1

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