ClinVar Miner

Variants in gene COL4A5

Minimum submission review status: Collection method:
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Gene type:
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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
809 77 56 12 25 957

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Alport syndrome 1, X-linked recessive 769 33 25 4 19 846
not provided 63 40 25 2 9 135
not specified 0 2 6 7 16 31
Alport syndrome 1 0 0 0 0 1
Downslanted palpebral fissures; Proteinuria; Nephropathy; Hematuria 1 0 0 0 0 1
Familial hematuria 0 1 0 0 0 1
Hearing impairment; Bilateral sensorineural hearing impairment; Nephritis; Proteinuria; Global glomerulosclerosis 1 0 0 0 0 1
Hearing impairment; Proteinuria; Hematuria 0 0 1 0 0 1
Inborn genetic diseases 1 0 0 0 0 1
Microscopic hematuria; Elevated mean arterial pressure; Chronic kidney disease 1 0 0 0 0 1
Mild proteinuria; Glomerulopathy; Hypertension 1 0 0 0 0 1
Proteinuria; Hematuria 0 1 0 0 0 1
See cases 0 0 1 0 0 1
Unilateral deafness; Microscopic hematuria; Mild proteinuria 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
ARUP Institute,ARUP Laboratories 736 3 13 4 19 775
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 24 22 11 0 0 57
Athena Diagnostics Inc 27 8 10 1 4 50
Gharavi Laboratory,Columbia University 15 18 8 0 0 41
GeneDx 21 5 6 3 0 35
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 6 0 0 10 16
OMIM 15 0 0 0 0 15
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 1 7 1 5 15
PreventionGenetics 0 0 0 3 9 12
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 9 9
Genetic Diagnostic Laboratory,University of Szeged 7 1 0 0 0 8
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 3 2 0 1 1 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 1 2 0 0 7
Molecular Diagnostics Laboratory,M Health: University of Minnesota 3 2 0 0 0 5
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 1 0 0 0 4
Institute of Human Genetics,Cologne University 1 1 1 0 0 3
GeneReviews 3 0 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 1 0 0 3
Baylor Miraca Genetics Laboratories, 2 0 0 0 0 2
Molecular Medicine Center, Medical University of Sofia 2 0 0 0 0 2
Ambry Genetics 1 0 0 0 0 1
MVZ Dortmund,Dr. Eberhard & Partner 1 0 0 0 0 1
Fulgent Genetics 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Dhiti Omics Technologies Pvt. Ltd. 0 1 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 1
Molecular Medicine Research Center,University of Cyprus 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 1
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 1 0 0 0 0 1
Department of Laboratory Medicine,Soonchunhyang University Seoul Hospital 0 1 0 0 0 1

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