ClinVar Miner

Variants studied for hereditary spherocytosis type 2

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
52 32 29 2 16 129

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SPTB 51 32 27 2 16 126
​intergenic 1 0 0 0 0 1
PLEKHG3, SPTB 0 0 1 0 0 1
SPTA1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University 30 1 0 0 0 31
Neuberg Centre For Genomic Medicine, NCGM 0 5 13 0 0 18
Genome-Nilou Lab 0 0 0 0 16 16
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 4 0 0 6
Department of Genetic, Henri Mondor Hospital, Assistance Publique des Hôpitaux de Paris 3 3 0 0 0 6
UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano 6 0 0 0 0 6
OMIM 5 0 0 0 0 5
3billion 0 5 0 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 2 0 0 4
MVZ Dr. Eberhard & Partner Dortmund 0 3 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 1 2 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 3
Baylor Genetics 0 1 1 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 2
Subrahamanyam Lab, Department of Biochemistry, National Institute of Nutrition, Indian Council of Medical Research 0 0 2 0 0 2
Mendelics 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
Molecular Genetic Center, Genetaq 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Institute of Medical Genetics, University of Zurich 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 1

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