ClinVar Miner

Variants studied for Hereditary spherocytosis type 1

Coded as:
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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
82 122 282 81 67 593

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ANK1 73 105 265 74 59 539
ANK1, LOC124153154 1 7 4 4 5 18
ANK1, LOC126860368 2 4 8 1 1 16
ANK1, LOC126860369 6 5 4 0 1 15
ANK1, LOC130000286 0 1 1 2 1 5

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 1 0 140 36 37 214
Revvity Omics, Revvity 22 88 87 2 0 199
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 29 4 47 48 43 171
Genome-Nilou Lab 0 0 0 0 41 41
Neuberg Centre For Genomic Medicine, NCGM 1 10 10 0 0 21
Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University 18 1 0 0 0 19
Department of Haematogenetics, ICMR National Institute of Immunohaematology 4 6 2 0 0 12
Department of Genetic, Henri Mondor Hospital, Assistance Publique des Hôpitaux de Paris 8 1 0 0 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 4 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 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
3billion 0 5 1 0 0 6
Fulgent Genetics, Fulgent Genetics 1 0 0 4 0 5
OMIM 4 0 0 0 0 4
Baylor Genetics 0 1 3 0 0 4
Mendelics 0 0 0 1 2 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 2 0 0 0 3
UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano 3 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 0 2
Dr.Nikuei Genetic Center 0 0 0 1 1 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Institute of Medical Genetics, University of Zurich 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 0 1 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 1
Subrahamanyam Lab, Department of Biochemistry, National Institute of Nutrition, Indian Council of Medical Research 0 0 1 0 0 1

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