ClinVar Miner

Variants studied for Spherocytosis type 2

Coded as:
Minimum submission review status: Collection method:
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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 5 0 0 0 14

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic total
SPTB 8 5 13
​intergenic 1 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic total
Department of Genetic, Henri Mondor Hospital,Assistance Publique des Hôpitaux de Paris 3 3 6
OMIM 5 0 5
Molecular Genetic Center,Genetaq 0 1 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 1

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