ClinVar Miner

Variants studied for epidermolytic ichthyosis

Included ClinVar conditions (13):
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 total
31 12 20 4 28 94

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
KRT1 15 6 14 1 26 61
KRT10 15 5 6 3 2 31
COL7A1 0 1 0 0 0 1
KRT10, LOC126862559 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 1 1 12 1 26 41
OMIM 26 0 0 0 0 26
Fulgent Genetics, Fulgent Genetics 1 1 1 2 1 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 2 1 0 0 4
3billion 2 1 0 0 0 3
Baylor Genetics 1 0 1 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 1 0 0 2
Mendelics 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
KK Women’s and Children’s Hospital 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Lifecell International Pvt. Ltd 0 1 0 0 0 1
Genetics Department, Catlab 1 0 0 0 0 1

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