ClinVar Miner

Variants studied for localized junctional epidermolysis bullosa, non-Herlitz type

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
39 51 126 26 100 1 339

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
COL17A1 7 7 102 24 38 1 178
LAMB3 26 39 13 0 24 0 100
LAMA3 2 2 5 2 21 0 31
LAMC2 4 1 2 0 10 0 17
GALK1, ITGB4 0 2 1 0 4 0 7
COL17A1, LOC126861025 0 0 2 0 0 0 2
LAMC2, LOC126805948 0 0 0 0 2 0 2
ITGB4 0 0 0 0 1 0 1
LAMB3, LOC126805999 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 1 103 24 34 0 163
Genome-Nilou Lab 0 0 9 2 75 0 86
Myriad Genetics, Inc. 2 32 0 0 0 0 34
Fulgent Genetics, Fulgent Genetics 10 2 5 0 0 0 17
OMIM 9 0 0 0 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 3 3 2 0 0 0 8
Baylor Genetics 4 0 2 0 0 0 6
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 3 0 0 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 2 0 0 0 4
3billion 3 0 1 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 0 3
Institute of Human Genetics, University of Ulm 0 2 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 1 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Counsyl 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 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
Biologia e Medicina Molecolare, Sapienza University of Rome 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Rare Diseases Genetics and Genomics, Islamia College Peshawar 1 0 0 0 0 0 1
Center for Reproductive Medicine, Changhai Hospital, Naval Medical University 0 1 0 0 0 0 1

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