ClinVar Miner

Variants studied for Spherocytosis type 2

Coded as:
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Gene type:
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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
9 8 1 0 0 18

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
SPTB 8 8 1 17
​intergenic 1 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance total
Department of Genetic, Henri Mondor Hospital,Assistance Publique des Hôpitaux de Paris 3 3 0 6
OMIM 5 0 0 5
Broad Institute Rare Disease Group,Broad Institute 0 1 1 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 1
Molecular Genetic Center,Genetaq 0 1 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 0 1

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