ClinVar Miner

Variants in gene ASXL1

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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 not provided total
107 41 827 686 123 29 1616

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 57 12 503 387 123 2 1006
Inborn genetic diseases 10 0 349 459 0 0 818
Bohring-Opitz syndrome 45 23 34 7 54 0 158
ASXL1-related disorder 3 1 16 36 6 0 62
not specified 0 0 8 6 12 27 47
Bohring-Opitz syndrome; Myelodysplastic syndrome 0 2 2 6 0 0 10
Myelodysplastic syndrome 2 2 4 0 0 0 8
Intellectual disability 0 0 1 3 0 0 4
Autism spectrum disorder 0 1 0 1 0 0 2
Microcephaly 1 0 1 0 0 0 2
Rubinstein Taybi like syndrome 0 2 0 0 0 0 2
Abnormal brain morphology 0 1 0 0 0 0 1
Atypical chronic myeloid leukemia, BCR-ABL1 negative 1 0 0 0 0 0 1
Developmental delay; dystrophia 1 0 0 0 0 0 1
Global developmental delay; Floppy infant 0 0 1 0 0 0 1
Hypertrichosis; Global developmental delay; Feeding difficulties; Abnormal corpus callosum morphology; Delayed speech and language development; Glabellar hemangioma; Small for gestational age; Delayed gross motor development; Prominent metopic ridge; Intellectual disability, severe 1 0 0 0 0 0 1
Juvenile myelomonocytic leukemia 0 0 1 0 0 0 1
Juvenile myelomonocytic leukemia; Cafe-au-lait spot 1 0 0 0 0 0 1
Myelodysplasia 1 0 0 0 0 0 1
Neurodevelopmental abnormality 1 0 0 0 0 0 1
See cases 0 0 1 0 0 0 1
Seizure; Hypertonia; Delayed speech and language development; Moderate global developmental delay 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 73
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 28 1 424 316 88 0 857
Ambry Genetics 10 0 349 459 0 0 818
GeneDx 26 5 70 52 59 0 212
CeGaT Center for Human Genetics Tuebingen 1 4 9 56 9 0 79
PreventionGenetics, part of Exact Sciences 2 1 16 36 6 0 61
Genome-Nilou Lab 0 0 0 0 54 0 54
Breakthrough Genomics, Breakthrough Genomics 0 0 2 16 22 0 40
ITMI 0 0 0 0 0 27 27
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 3 6 5 0 0 22
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 5 8 0 13
Revvity Omics, Revvity 1 0 11 0 0 0 12
Baylor Genetics 5 2 4 0 0 0 11
Eurofins Ntd Llc (ga) 0 1 6 0 3 0 10
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 10 0 10
Medgenome Labs Pvt Ltd 3 7 0 0 0 0 10
OMIM 8 0 0 0 0 0 8
Fulgent Genetics, Fulgent Genetics 0 1 1 6 0 0 8
Illumina Laboratory Services, Illumina 2 0 3 3 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 4 0 0 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 3 2 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 4 0 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 3 0 0 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 6 0 0 6
Mendelics 2 0 3 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 1 1 0 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 1 3 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 3 0 1 0 0 0 4
3billion 1 3 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 2 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 3 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 0 3
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 3 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 2 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 2 0 0 0 0 2
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 2 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 1 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 1 0 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 2 0 0 0 0 0 2
Athena Diagnostics 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 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 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
TIDEX, University of British Columbia 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Klco Lab, St Judes Childrens Research Hospital 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Institute of Laboratory Medicine, Hospital Wels-Grieskirchen 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1
Department of Pediatrics, Government Thiruvarur Medical College and Hospital 0 1 0 0 0 0 1

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