ClinVar Miner

Variants studied for 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
8 8 365 65 107 531

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
COL4A4 1 2 206 47 52 294
COL4A3, MFF-DT 4 3 150 18 52 219
COL4A3 1 0 9 0 2 12
COL4A5 2 3 0 0 1 6

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 315 44 81 440
Natera, Inc. 6 2 64 24 62 158
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 5 1 0 0 7
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 1 0 0 0 0 1

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