ClinVar Miner

Variants studied for X-linked 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 not provided total
234 310 101 88 30 4 725

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL4A5 234 308 99 87 29 4 719
ATG4A, COL4A5, COL4A6, LOC126863300 0 1 0 0 0 0 1
COL4A4 0 0 0 0 1 0 1
COL4A5, COL4A6, LOC126863301 0 1 0 0 0 0 1
FN1 0 0 1 0 0 0 1
MSR1 0 0 0 1 0 0 1
ZC3H12C 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 75
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 46 42 16 38 2 0 144
Natera, Inc. 6 1 14 55 15 0 91
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 35 32 16 1 0 0 84
Myriad Genetics, Inc. 0 70 0 0 0 0 70
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 37 14 0 0 0 0 51
3billion 6 22 10 0 0 0 38
Precision Medicine Center, Zhengzhou University 15 13 3 0 0 0 31
Molecular Biology Laboratory, Fundació Puigvert 15 13 0 0 0 0 28
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 4 2 2 12 0 24
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 12 8 0 0 0 0 20
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 13 0 0 0 0 19
Genome-Nilou Lab 0 2 2 6 7 0 17
Mendelics 6 4 1 0 5 0 16
Medizinische Genetik Mainz, Limbach Genetics GmbH 7 5 4 0 0 0 16
OMIM 15 0 0 0 0 0 15
Revvity Omics, Revvity 5 5 5 0 0 0 15
Institute of Human Genetics, Cologne University 3 7 2 0 0 0 12
Baylor Genetics 5 0 6 0 0 0 11
Centogene AG - the Rare Disease Company 3 3 4 0 1 0 11
Medical Genetics, University of Parma 2 7 2 0 0 0 11
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 7 3 1 0 0 0 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 5 2 0 0 0 9
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 2 2 0 0 0 9
Genetic Diagnostic Laboratory, University of Szeged 7 1 0 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 3 1 4 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 2 5 1 0 0 0 8
MGZ Medical Genetics Center 1 4 2 0 0 0 7
Molecular Genetics, Royal Melbourne Hospital 0 4 2 0 0 0 6
Eurofins-Biomnis 3 3 0 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 4 0 0 0 0 5
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 2 0 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 3 2 0 0 0 0 5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 2 0 0 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 1 1 0 0 4
Prenatal Diagnosis Center, Inner Mongolia Medical University 4 0 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 3 0 0 0 0 3
Counsyl 0 1 2 0 0 0 3
GeneReviews 1 0 0 0 0 2 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 0 1 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 0 0 0 0 3
Medical Genetics Department, Charles Nicolle Hospital Tunis 0 3 0 0 0 0 3
Illumina Laboratory Services, Illumina 0 1 1 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Molecular Medicine Center, Medical University of Sofia 1 1 0 0 0 0 2
Institute of Clinical Laboratory Science, Nanjing University Affiliated Jinling Hospital 2 0 0 0 0 0 2
Suma Genomics 1 1 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
King Laboratory, University of Washington 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, GenePath diagnostics 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
HSP Biomedical Diagnostics Department, Hospital San Pedro 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Department of Laboratory Medicine, Soonchunhyang University Seoul Hospital 0 1 0 0 0 0 1
INGEBI, INGEBI / CONICET 1 0 0 0 0 0 1
Genesis Genoma Lab, Genesis Genoma Lab 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 1
Department of Pediatric Nephrology, Wuhan Children's Hospital 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
DBGen Ocular Genomics 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Nephropathy, Central South University Xiangya School of Medicine Affiliated Haikou Hospital 1 0 0 0 0 0 1
Nephrology Department, Xi'an Children's Hospital 1 0 0 0 0 0 1
Watson Genetic Lab 1 0 0 0 0 0 1

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