ClinVar Miner

Variants in gene COL4A5

Minimum submission review status: Collection method:
Minimum conflict level:
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 not provided total
865 113 77 47 77 1 1128

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Alport syndrome 1, X-linked recessive 806 63 35 5 20 1 917
not provided 99 46 36 34 64 0 262
not specified 0 2 6 10 15 0 33
Alport syndrome 1 0 0 0 0 0 1
Downslanted palpebral fissures; Proteinuria; Nephropathy; Hematuria 1 0 0 0 0 0 1
Familial hematuria 0 1 0 0 0 0 1
Hearing impairment; Bilateral sensorineural hearing impairment; Nephritis; Proteinuria; Global glomerulosclerosis 1 0 0 0 0 0 1
Hearing impairment; Proteinuria; Hematuria 0 0 1 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 1
Microscopic hematuria; Elevated mean arterial pressure; Chronic kidney disease 1 0 0 0 0 0 1
Mild proteinuria; Glomerulopathy; Hypertensive disorder 1 0 0 0 0 0 1
Proteinuria; Hematuria 0 1 0 0 0 0 1
Rare genetic deafness 0 1 0 0 0 0 1
See cases 0 0 1 0 0 0 1
Steroid-resistant nephrotic syndrome 0 1 0 0 0 0 1
Unilateral deafness; Microscopic hematuria; Mild proteinuria 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Research and Development, ARUP Laboratories 735 3 13 4 19 0 774
Invitae 27 3 7 31 57 0 125
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 34 31 15 1 0 0 81
Athena Diagnostics Inc 38 10 14 2 7 0 71
Gharavi Laboratory,Columbia University 15 18 8 0 0 0 41
GeneDx 21 5 6 3 1 0 36
Institute of Human Genetics,Klinikum rechts der Isar 32 4 0 0 0 0 36
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 8 0 0 10 0 20
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 4 12 0 17
OMIM 15 0 0 0 0 0 15
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 1 7 1 5 0 15
PreventionGenetics,PreventionGenetics 0 0 0 3 9 0 12
Mendelics 3 4 2 0 3 0 12
Medical Genetics, University of Parma 2 7 2 0 0 0 11
Genetic Diagnostic Laboratory,University of Szeged 7 1 0 0 0 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 3 4 1 0 0 0 8
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 3 2 0 1 1 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 1 2 0 0 0 7
Institute of Human Genetics,Cologne University 2 3 1 0 0 0 6
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 5 0 0 0 0 0 5
Molecular Diagnostics Laboratory, M Health: University of Minnesota 3 2 0 0 0 0 5
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 1 0 0 0 0 4
Counsyl 0 1 2 0 0 0 3
GeneReviews 3 0 0 0 0 0 3
Baylor Genetics 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 2
Molecular Medicine Center, Medical University of Sofia 2 0 0 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 0 2 0 0 0 0 2
Ambry Genetics 1 0 0 0 0 0 1
MVZ Dortmund,Dr. Eberhard & Partner 1 0 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Dhiti Omics Technologies Pvt. Ltd. 0 1 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Medicine Research Center,University of Cyprus 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Department of Laboratory Medicine,Soonchunhyang University Seoul Hospital 0 1 0 0 0 0 1
Institute of Clinical Laboratory Science,Nanjing University Affiliated Jinling Hospital 1 0 0 0 0 0 1

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