ClinVar Miner

Variants studied for Alport syndrome

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
173 596 602 100 116 1510

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
COL4A4 61 275 327 65 60 740
COL4A3, MFF-DT 79 298 257 34 53 693
COL4A5 29 20 4 0 1 54
COL4A3, LOC129935730 3 3 8 1 2 16
COL4A3 0 0 3 0 0 3
CLDN14 0 0 1 0 0 1
COL4A3, COL4A4 0 0 1 0 0 1
COL4A3, COL4A4, LOC129935730 1 0 0 0 0 1
MYO15A 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Natera, Inc. 86 493 288 61 79 1007
Illumina Laboratory Services, Illumina 1 1 297 41 78 418
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 66 79 31 0 0 176
Sydney Genome Diagnostics, Children's Hospital Westmead 29 16 8 0 0 53
Myriad Genetics, Inc. 5 19 0 0 0 24
Molecular Genetics, Royal Melbourne Hospital 8 7 4 0 0 19
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 11 2 1 14
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 6 2 0 0 9
Institute of Human Genetics, Cologne University 1 3 0 0 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 2 1 0 0 0 3
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 1 0 2 0 0 3
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 2 1 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 1 2 0 0 3
Dasa 1 1 0 0 0 2
MVZ Dr. Eberhard & Partner Dortmund 0 1 1 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 1
Division of Nephrology, Li Ka Shing Institute of Health Sciences, Chinese University of Hong Kong 1 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
MVZ Martinsried, Medicover Genetics 0 1 0 0 0 1
Mendelics 0 0 1 0 0 1
Molecular Medicine Center, Medical University of Sofia 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 1

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