ClinVar Miner

Variants studied for Spherocytosis type 1

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
14 2 151 37 45 243

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
ANK1 14 2 151 37 45 243

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 140 36 37 213
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 0 11 0 9 24
Department of Genetic, Henri Mondor Hospital,Assistance Publique des Hôpitaux de Paris 6 1 0 0 0 7
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 6 6
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 6 6
OMIM 4 0 0 0 0 4
Mendelics 0 0 0 1 2 3
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 1

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