ClinVar Miner

Variants studied for Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Coded as:
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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
50 57 1100 403 31 1633

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DSP 50 57 1100 403 31 1633

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
All of Us Research Program, National Institutes of Health 29 47 1089 403 21 1589
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 3 6 0 0 12
OMIM 11 0 0 0 0 11
Genome-Nilou Lab 0 0 0 0 8 8
Molecular Genetics, Royal Melbourne Hospital 2 2 1 2 0 7
Mendelics 2 0 0 0 3 5
Baylor Genetics 2 0 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 3
3billion 0 1 1 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 2
Phosphorus, Inc. 0 0 1 0 1 2
Arcensus 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1

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