ClinVar Miner

Variants in gene VPS13B

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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
740 553 2448 2825 243 14 6275

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cohen syndrome 689 513 2036 2596 157 10 5614
VPS13B-related disorder 11 25 513 407 8 0 964
not provided 108 38 342 203 116 6 755
Inborn genetic diseases 22 1 432 133 35 0 623
not specified 0 0 124 67 49 0 209
See cases 1 1 1 3 2 0 8
Retinitis pigmentosa 3 0 0 0 1 0 4
Abnormality of the eye 0 0 3 0 0 0 3
Abnormality of the nervous system 1 2 0 0 0 0 3
Microcephaly 1 1 1 0 0 0 3
Abnormal brain morphology 0 2 0 0 0 0 2
Global developmental delay; Retinal dystrophy; High myopia 0 2 0 0 0 0 2
Intellectual disability 0 0 1 1 0 0 2
Myopia; Retinal dystrophy; Optic disc pallor; Intellectual disability; Joint laxity; Mild hearing impairment 0 2 0 0 0 0 2
Retinal dystrophy 0 2 0 0 0 0 2
Short stature; Retinal dystrophy; Microcephaly; Progressive visual loss; Intellectual disability; Short foot; Decreased total neutrophil count; Recurrent aphthous stomatitis; Small hand 2 0 0 0 0 0 2
Abnormality of neuronal migration 1 0 0 0 0 0 1
Autism 1 0 0 0 0 0 1
Congenital long QT syndrome 0 1 0 0 0 0 1
Global developmental delay; Unsteady gait; Microcephaly; Carious teeth; Intellectual disability; Generalized joint hypermobility; Attention deficit hyperactivity disorder; Hypotonia 1 0 0 0 0 0 1
Neutropenia, severe congenital, 1, autosomal dominant 0 0 0 1 0 0 1
Pituitary stalk interruption syndrome 0 0 1 0 0 0 1
Schizophrenia 0 1 0 0 0 0 1
Susceptibility to severe COVID-19 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 120
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 613 127 1722 2524 126 0 5112
PreventionGenetics, part of Exact Sciences 11 25 513 422 20 0 991
Natera, Inc. 22 11 445 90 70 0 638
Ambry Genetics 22 1 432 133 35 0 623
GeneDx 62 24 147 91 112 0 436
Counsyl 4 210 59 20 0 0 293
Illumina Laboratory Services, Illumina 1 0 209 41 36 0 287
Fulgent Genetics, Fulgent Genetics 23 84 65 2 1 0 175
CeGaT Center for Human Genetics Tuebingen 19 8 46 89 4 0 166
Eurofins Ntd Llc (ga) 7 0 110 4 29 0 150
Genetic Services Laboratory, University of Chicago 6 0 89 41 10 0 146
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 28 22 31 6 11 0 98
Breakthrough Genomics, Breakthrough Genomics 0 1 20 43 34 0 98
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 77 0 0 0 0 77
Athena Diagnostics 3 1 29 12 21 0 66
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 8 31 14 0 53
Genome-Nilou Lab 1 4 22 13 8 0 48
Revvity Omics, Revvity 5 13 27 0 0 0 45
New York Genome Center 1 3 39 0 0 0 43
Department of Pathology and Laboratory Medicine, Sinai Health System 1 4 32 2 0 0 39
Clinical Genetics, Academic Medical Center 0 1 4 27 6 0 38
Mayo Clinic Laboratories, Mayo Clinic 0 2 32 0 0 0 34
Myriad Genetics, Inc. 2 29 2 0 0 0 33
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 15 15 0 31
Baylor Genetics 3 0 24 0 0 0 27
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 22 2 1 0 25
SNPedia 21 0 0 0 0 2 23
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 4 12 3 0 19
OMIM 16 0 0 0 0 0 16
3billion 9 3 2 1 0 0 15
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 6 8 0 0 0 0 14
Mendelics 4 0 2 4 3 0 13
Institute of Human Genetics, University of Leipzig Medical Center 4 2 5 2 0 0 13
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 4 7 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 0 3 0 0 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 6 2 2 0 0 0 10
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 2 1 6 0 10
Service de Génétique Moléculaire, Hôpital Robert Debré 1 5 0 2 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 3 3 0 8
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 4 0 0 0 0 8
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 4 0 0 0 0 7
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 5 2 0 0 7
Department of Molecular and Human Genetics, Baylor College of Medicine 7 0 0 0 0 0 7
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 1 4 0 0 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 2 0 0 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 1 1 0 0 0 6
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 4 2 0 0 0 0 6
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 1 1 1 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 6 6
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 6 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 1 2 0 5
Bionano Laboratories 3 0 2 0 0 0 5
ISCA Site 6 0 0 0 3 2 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 2 2 0 0 0 5
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 3 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 4 1 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 2 2 0 0 0 5
Molecular Endocrinology Laboratory, Christian Medical College 0 0 5 0 0 0 5
Molecular Genetics Laboratory, Institute for Ophthalmic Research 3 0 0 0 1 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 2 1 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 1 0 1 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 0 2 2 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 1 0 0 0 0 4
GeneReviews 0 0 0 0 0 3 3
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 3 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 2 0 0 1 0 0 3
Laboratoire de Génétique Moléculaire, CHU Bordeaux 2 0 0 1 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 1 2 0 0 0 0 3
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 2 1 0 0 0 0 3
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 1 1 1 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 0 3 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 1 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 1 0 0 0 2
Pars Genome Lab 0 0 1 1 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 0 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 2 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Dr.Nikuei Genetic Center 0 0 0 0 2 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Department of Psychiatry, Nagoya University 0 1 0 0 0 0 1
ISCA site 4 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 0 1 0 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 1 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 1 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 0 1
Genetics and Genomics Program, Sidra Medicine 0 1 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 1
Human Developmental Genetics, Institut Pasteur 0 0 1 0 0 0 1
Medical Genetic Department, The Affiliated Hospital of Qingdao University 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Cytogenetics, Genetics Associates, Inc. 1 0 0 0 0 0 1
Centre for Addiction & Mental Health, Centre for Addiction & Mental Health 1 0 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 0 1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 0 0 1 0 0 0 1

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