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
36 26 376 65 107 586

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
COL4A4 4 5 209 47 52 302
COL4A3, MFF-DT 7 6 152 18 52 226
COL4A5 24 15 4 0 1 44
COL4A3 1 0 9 0 2 12
CLDN14 0 0 1 0 0 1
MYO15A 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 1 315 44 81 441
Natera, Inc. 6 2 64 24 62 158
Sydney Genome Diagnostics,Children's Hospital Westmead 28 16 9 0 0 53
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 6 2 0 0 9
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 1 0 2 0 0 3
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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