ClinVar Miner

Variants in gene ANK1

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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
121 139 460 217 143 942

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hereditary spherocytosis type 1 68 96 254 73 58 517
not provided 62 45 137 138 128 480
Spherocytosis 0 0 170 11 9 190
Inborn genetic diseases 0 0 65 4 0 69
ANK1-related condition 6 4 9 34 3 56
not specified 0 0 2 10 20 31
Spherocytosis, Dominant 0 0 9 3 0 12
Spherocytosis, type 1, autosomal recessive 3 0 0 0 2 4
Anemia 0 0 1 0 0 1
Hemolytic anemia 0 0 1 0 0 1
Hereditary spherocytosis 0 1 0 0 0 1
Immunodeficiency 62 0 0 1 0 0 1
Microcephaly 0 0 1 0 0 1
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 55 12 70 118 56 311
Illumina Laboratory Services, Illumina 1 0 186 47 30 213
Revvity Omics, Revvity 19 73 79 2 0 173
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 25 4 45 45 36 155
GeneDx 3 3 11 0 79 96
PreventionGenetics, part of Exact Sciences 6 4 9 43 22 84
Mayo Clinic Laboratories, Mayo Clinic 7 21 53 0 0 81
Ambry Genetics 0 0 65 4 0 69
CeGaT Center for Human Genetics Tuebingen 2 3 7 21 5 38
Genome-Nilou Lab 0 0 0 0 34 34
Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University 17 1 0 0 0 18
Department of Haematogenetics, ICMR National Institute of Immunohaematology 4 5 2 0 0 11
OMIM 7 0 0 0 1 8
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 5 3 0 0 8
Department of Genetic, Henri Mondor Hospital, Assistance Publique des Hôpitaux de Paris 5 1 0 0 0 6
3billion 0 5 1 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 5 5
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 4 1 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 5 5
Baylor Genetics 0 1 3 0 0 4
Fulgent Genetics, Fulgent Genetics 1 0 0 3 0 4
MVZ Dr. Eberhard & Partner Dortmund 1 1 1 0 0 3
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 3
UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano 3 0 0 0 0 3
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 2 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 2
Department of Laboratory Medicine, Yonsei University College of Medicine 0 1 1 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 1
Bionano Laboratories 0 0 1 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 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
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 1
Institute of Medical Genetics, University of Zurich 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 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
H3Africa Consortium 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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