ClinVar Miner

Variants studied for Alport syndrome

Coded as:
Minimum submission review status: Collection method:
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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
57 47 453 97 119 729

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
COL4A4 8 14 253 62 63 371
COL4A3, MFF-DT 19 12 183 34 53 286
COL4A5 29 21 4 0 1 55
COL4A3, LOC129935730 1 0 7 1 2 11
COL4A3 0 0 3 0 0 3
CLDN14 0 0 1 0 0 1
COL4A3, COL4A4 0 0 1 0 0 1
MYO15A 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 1 315 44 81 441
Natera, Inc. 20 9 153 57 79 318
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
Molecular Genetics, Royal Melbourne Hospital 3 4 2 0 0 9
Institute of Human Genetics, Cologne University 1 3 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 1 2 0 0 3
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 2 1 0 0 0 3
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 1 0 2 0 0 3
MVZ Dr. Eberhard & Partner Dortmund 0 1 1 0 0 2
DASA 1 1 0 0 0 2
Mendelics 0 0 1 0 0 1
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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 1 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 0 1 0 0 0 1

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