ClinVar Miner

Variants studied for hereditary spherocytosis

Included ClinVar conditions (14):
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 not provided total
196 213 812 176 163 8 1480

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ANK1 79 113 278 90 63 0 583
SLC4A1 31 21 195 34 29 1 292
SPTA1 13 12 192 17 38 0 270
SPTB 56 41 28 2 16 1 142
EPB42 7 8 84 22 6 6 112
OR10Z1, SPTA1 0 0 16 0 3 0 19
ANK1, LOC124153154 1 7 4 4 5 0 18
ANK1, LOC126860369 6 5 5 2 1 0 18
ANK1, LOC126860368 2 4 7 3 1 0 17
ANK1, LOC130000286 0 1 1 2 1 0 5
​intergenic 1 0 0 0 0 0 1
GPI 0 1 0 0 0 0 1
LOC126862501, MYH2, MYHAS 0 0 1 0 0 0 1
PLEKHG3, SPTB 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 0 454 72 100 0 627
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 39 9 82 86 56 0 272
Revvity Omics, Revvity 22 90 120 4 0 0 236
Fulgent Genetics, Fulgent Genetics 11 13 126 28 2 0 180
Genome-Nilou Lab 0 0 0 0 79 0 79
Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University 59 13 0 0 0 0 72
Neuberg Centre For Genomic Medicine, NCGM 2 17 25 0 0 0 44
OMIM 29 0 0 0 0 0 29
Department of Genetic, Henri Mondor Hospital, Assistance Publique des Hôpitaux de Paris 14 9 0 0 0 0 23
Juno Genomics, Hangzhou Juno Genomics, Inc 11 8 3 0 0 0 22
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 5 11 0 0 0 18
UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano 11 3 1 0 0 0 15
3billion, Medical Genetics 1 11 2 0 0 0 14
Department of Haematogenetics, ICMR National Institute of Immunohaematology 4 6 2 0 0 0 12
Baylor Genetics 1 2 7 0 0 0 10
MVZ Dr. Eberhard & Partner Dortmund 3 5 1 0 0 0 9
Mendelics 1 0 1 1 5 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 5 0 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 6 0 6
GeneReviews 0 0 0 0 0 6 6
Institute of Human Genetics, University of Leipzig Medical Center 2 2 2 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 2 1 1 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 2 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 2 0 0 0 0 4
Subrahamanyam Lab, Department of Biochemistry, National Institute of Nutrition, Indian Council of Medical Research 0 0 4 0 0 0 4
Centogene AG - the Rare Disease Company 1 0 2 0 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 0 1 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 1 0 0 0 3
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 3 0 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 2 1 0 0 0 0 3
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Institute of Medical Genetics, University of Zurich 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Dr.Nikuei Genetic Center 0 0 0 1 1 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Molecular Genetic Center, Genetaq 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Department of Hematology, 303rd Hospital of the People's Liberation Army 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz 1 0 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 0 1

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