ClinVar Miner

Variants studied for Junctional epidermolysis bullosa with pyloric atresia

Coded as:
Minimum submission review status: Collection method:
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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
37 7 224 42 59 1 364

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ITGB4 27 4 94 10 19 1 151
ITGA6, PDK1 1 1 59 20 20 0 99
GALK1, ITGB4 7 1 55 10 11 0 84
ITGA6 1 0 16 2 9 0 28
MYO6 0 1 0 0 0 0 1
PLEC 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 214 41 55 0 310
OMIM 14 0 0 0 0 0 14
Biomedical Innovation Departament, CIEMAT 14 0 0 0 0 0 14
Genome-Nilou Lab 0 0 0 0 8 0 8
Baylor Genetics 0 1 5 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 1 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 0 1 1 0 1 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 0 0 3
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Mendelics 0 0 1 0 1 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Fulgent Genetics, Fulgent Genetics 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 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
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 1

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