ClinVar Miner

Variants studied for Usmani-Riazuddin syndrome, autosomal dominant

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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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
4 2 6 0 0 12

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
AP1G1 4 2 6 12

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 3 0 0 3
3billion 1 0 1 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 1 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 1

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