ClinVar Miner

Variants studied for nail disorder

Included ClinVar conditions (9):
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
91 121 92 18 16 332

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
COL7A1 66 119 39 7 2 230
HPGD 3 0 47 11 12 72
RSPO4 11 0 1 0 0 11
FZD6 5 2 1 0 2 9
PLCD1 4 0 4 0 0 8
KRT17 1 0 0 0 0 1
LOC111982863, SLC25A16 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 60 116 38 8 3 225
Illumina Laboratory Services, Illumina 0 0 46 9 12 67
OMIM 22 0 0 0 0 22
Juno Genomics, Hangzhou Juno Genomics, Inc 3 3 1 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 4 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 0 0 0 0 4
Baylor Genetics 0 0 3 0 0 3
3billion, Medical Genetics 1 0 1 1 0 3
Department of Immunology, Genetics and Pathology, Uppsala University 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 0 0 0 2
MVZ Medizinische Genetik Mainz 2 0 0 0 0 2
Mendelics 0 0 0 0 1 1
University of Washington Center for Mendelian Genomics, University of Washington 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1

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