ClinVar Miner

Variants studied for COL4A1/A2-related disorder

Included ClinVar conditions (16):
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 not provided total
95 205 727 215 218 13 1390

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 not provided total
COL4A1 75 148 336 153 97 13 759
COL4A2 13 30 138 30 114 0 307
ACE 5 24 242 26 1 0 297
COL4A1, LOC126861856 1 2 6 3 1 0 12
ACE, LOC130061383 0 1 1 3 0 0 5
COL4A1, COL4A2 0 0 0 0 5 0 5
PLOD3 0 0 3 0 0 0 3
COL4A4 0 0 1 0 0 0 1
KAT6B 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 91
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 6 63 431 107 3 0 610
Illumina Laboratory Services, Illumina 2 1 106 39 200 0 348
PreventionGenetics, part of Exact Sciences 2 9 47 78 7 0 143
OMIM 35 0 0 0 0 0 35
3billion 7 9 17 0 0 0 33
Institute of Human Genetics, University of Leipzig Medical Center 6 9 12 1 0 0 28
Genome-Nilou Lab 0 0 0 0 27 0 27
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 9 10 1 0 0 27
Baylor Genetics 7 7 13 0 0 0 26
MVZ Medizinische Genetik Mainz 0 13 8 0 0 0 21
New York Genome Center 0 0 19 0 0 0 19
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 14 1 1 0 16
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 9 1 3 0 13
Revvity Omics, Revvity 0 0 12 0 0 0 12
GeneReviews 0 0 0 0 0 11 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 8 0 0 0 10
Institute of Human Genetics Munich, TUM University Hospital 6 4 0 0 0 0 10
Mendelics 2 4 0 0 4 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 6 0 0 0 0 10
Athena Diagnostics 0 0 0 0 9 0 9
MGZ Medical Genetics Center 1 1 7 0 0 0 9
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 5 0 0 0 0 8
MVZ Martinsried, Medicover Genetics 1 4 2 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 2 1 4 0 0 0 7
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 2 3 0 0 0 5
Daryl Scott Lab, Baylor College of Medicine 0 3 2 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 3 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 4 0 0 0 0 5
Variantyx, Inc. 0 5 0 0 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 2 0 0 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 2 1 0 0 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 4 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 1 0 0 0 0 4
Molecular Biology Laboratory, Fundació Puigvert 2 2 0 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 0 1 3 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 1 0 0 0 3
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 2 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 2 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 1 1 1 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 0 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 0 0 0 3
Neurovascular Genetics Laboratory, Assistance Publique - Hôpitaux de Paris 0 0 3 0 0 0 3
Undiagnosed Diseases Network, NIH 1 2 0 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 2 0 0 0 3
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 1 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 2 0 0 0 0 2
Department of Neurology, The First Affiliated Hospital of Fujian Medical University 0 2 0 0 0 0 2
Department of Neurology, Zibo Changguo Hospital 0 2 0 0 0 0 2
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 0 1 1 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 2 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 0 2 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Molecular Medicine, University of Pavia 0 1 1 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 1 0 0 0 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 1 1 0 0 0 2
Breda Genetics srl, Breda Genetics srl 0 1 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 0 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Institute of Medical Genetics, University of Zurich 0 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
Laboratorio de Biologia Molecular/Medicina Genomica - IFF/Fiocruz, Instituto Fernandes Figueira, Fundacao Oswaldo Cruz 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 1 0 0 0 1
Prenatal Diagnosis Center, Shandong Provincal Hospital 0 1 0 0 0 0 1
Prenatal Genetic Diagnosis Laboratory, The Chinese University of Hong Kong 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1

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