ClinVar Miner

Variants studied for recessive dystrophic epidermolysis bullosa

Included ClinVar conditions (7):
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
133 82 84 9 4 2 297

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL7A1 133 82 84 8 4 2 296
MMP1 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Center for Research in Genodermatoses and Epidermolysis Bullosa, University of Buenos Aires 54 9 8 0 0 0 71
Fulgent Genetics, Fulgent Genetics 19 8 32 8 2 0 69
Neuberg Centre For Genomic Medicine, NCGM 7 16 14 0 0 0 37
3billion 8 4 6 0 0 0 18
OMIM 16 0 0 0 0 0 16
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 10 5 1 0 0 0 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 6 0 0 0 0 14
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 4 10 0 0 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 3 1 0 0 0 13
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 4 2 2 0 0 0 8
Baylor Genetics 1 2 4 0 0 0 6
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 5 0 0 0 0 5
Gansu Province Medical Genetics Center 5 0 0 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 2 0 0 0 5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 3 0 0 0 0 5
Narges Medical Genetic and Prenatal Diagnosis Lab 2 3 0 0 0 0 5
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 3 0 0 0 0 4
Natera, Inc. 3 0 0 0 0 0 3
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 2 1 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 1 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 3 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 1 0 0 0 3
Mendelics 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 0 0 2 0 2
Biomedical Innovation Departament, CIEMAT 2 0 0 0 0 0 2
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 1 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Palindrome, Gene Kavoshgaran Aria 2 0 0 0 0 0 2
Arcensus 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Medical Genetics, Medical University Pleven 0 1 0 0 0 0 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 1 0 0 0 0 0 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 1 0 0 1
Group of Genodermatoses Investigation, Pirogov Russian National Research Medical University 1 0 0 0 0 0 1
Rare Diseases Genetics and Genomics, Islamia College Peshawar 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 1 0 0 0 0 1

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