ClinVar Miner

Variants studied for keratinopathic ichthyosis

Included ClinVar conditions (15):
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
51 13 39 13 69 184

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 total
KRT2 8 1 22 9 41 81
KRT1 18 6 14 1 26 64
KRT10 23 5 2 3 2 35
HRAS, LRRC56 1 0 1 0 0 2
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 34 10 66 112
OMIM 45 0 0 0 0 45
Fulgent Genetics, Fulgent Genetics 1 1 1 2 2 7
Clinical Genomics Laboratory, Washington University in St. Louis 3 0 2 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 2 1 0 0 4
Baylor Genetics 1 0 1 0 0 2
Mendelics 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
3billion 1 1 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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
Yale Center for Mendelian Genomics, Yale University 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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1

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