ClinVar Miner

Variants studied for X-linked Alport syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
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
281 348 124 88 30 4 827

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 281 346 121 87 29 4 820
COL4A4 0 0 1 0 1 0 2
ATG4A, COL4A5, COL4A6, LOC126863300 0 1 0 0 0 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: 88
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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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 42 13 6 0 0 0 61
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 37 14 0 0 0 0 51
MVZ Medizinische Genetik Mainz 20 20 11 0 0 0 51
Precision Medicine Center, Zhengzhou University 22 18 4 0 0 0 44
3billion 6 22 10 0 0 0 38
Molecular Biology Laboratory, Fundació Puigvert 15 13 0 0 0 0 28
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 17 0 0 0 0 26
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 4 2 2 12 0 24
Genome-Nilou Lab 0 2 2 6 7 0 17
Mendelics 6 4 1 0 5 0 16
OMIM 15 0 0 0 0 0 15
Revvity Omics, Revvity 5 5 5 0 0 0 15
Neuberg Centre For Genomic Medicine, NCGM 3 7 4 0 0 0 14
Institute of Human Genetics, Cologne University 3 8 2 0 0 0 13
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
Juno Genomics, Hangzhou Juno Genomics, Inc 3 5 2 0 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 5 2 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 3 1 5 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
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 1 0 0 0 0 5
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
Department of Human Genetics, Hannover Medical School 0 2 1 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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 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
Watson Genetic Lab 2 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 1 0 0 0 0 0 1
King Laboratory, University of Washington 1 0 0 0 0 0 1
CGC Genetics, Unilabs 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 0 0 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
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 1 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 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 Laboratory, 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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 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 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
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1
General Medicine, Assam Medical College and Hospital 0 0 1 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 1 0 0 0 0 0 1

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