ClinVar Miner

Variants studied for Hereditary spherocytosis type 3

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
13 8 203 17 39 279

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SPTA1 13 8 187 17 36 260
OR10Z1, SPTA1 0 0 16 0 3 19

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 195 17 32 244
Genome-Nilou Lab 0 0 0 0 22 22
Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University 3 4 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 3 0 0 4
Baylor Genetics 1 0 2 0 0 3
OMIM 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 2
Department of Genetic, Henri Mondor Hospital, Assistance Publique des Hôpitaux de Paris 0 2 0 0 0 2
3billion, Medical Genetics 1 0 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 1 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano 1 0 0 0 0 1

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