ClinVar Miner

Variants studied for Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome

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
0 3 1 0 8 12

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination likely pathogenic uncertain significance benign total
COL4A3, MFF-DT 2 1 8 11
COL4A4 1 0 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter likely pathogenic uncertain significance benign total
Athena Diagnostics 0 0 8 8
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 1
MVZ Medizinische Genetik Mainz 1 0 0 1

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