ClinVar Miner

Variants studied for Darier disease

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
11 20 53 15 35 130

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
ATP2A2 10 18 37 12 30 103
ATP2A2, LOC130008738 0 0 10 0 2 12
ATP2A2, LOC126861637 1 1 5 2 2 11
ATP2A2, LOC126861638 0 1 1 1 1 4

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 41 12 29 82
Medical Genetics Unit, Mauro Baschirotto Institute for Rare Disease 0 14 4 0 0 18
Genome-Nilou Lab 0 0 0 0 17 17
OMIM 7 0 0 0 0 7
Fulgent Genetics, Fulgent Genetics 0 0 1 3 1 5
Clinical Genomics Laboratory, Washington University in St. Louis 2 1 0 0 0 3
Mendelics 0 0 0 0 3 3
New York Genome Center 0 0 3 0 0 3
MVZ Medizinische Genetik Mainz 0 1 1 0 0 2
3billion 0 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 1
Department of Medical Genetics, College of Basic Medicine, Army Medical University 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1

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