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
303 343 1078 596 109 6 2126

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cohen syndrome 238 322 952 513 93 4 1919
not provided 78 18 163 75 20 2 346
not specified 0 0 70 57 40 0 143
History of neurodevelopmental disorder 1 0 50 53 31 0 135
Inborn genetic diseases 11 1 5 0 0 0 17
See cases 0 0 3 3 2 0 8
Retinitis pigmentosa 4 0 0 0 0 0 4
Abnormality of the eye 0 0 3 0 0 0 3
Microcephaly 1 1 1 0 0 0 3
Abnormality of brain morphology 0 2 0 0 0 0 2
Global developmental delay; Retinal dystrophy; Severe Myopia 0 2 0 0 0 0 2
Intellectual disability 0 0 1 1 0 0 2
Myopia (disease); 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
Schizophrenia 0 2 0 0 0 0 2
Short stature; Retinal dystrophy; Microcephaly; Progressive visual loss; Intellectual disability; Short foot; Neutropenia; Recurrent aphthous stomatitis; Small hand 2 0 0 0 0 0 2
Abnormality of neuronal migration 1 0 0 0 0 0 1
Global developmental delay; Unsteady gait; Microcephaly; Carious teeth; Intellectual disability; Generalized joint laxity; Attention deficit hyperactivity disorder; Muscular hypotonia 1 0 0 0 0 0 1
Pituitary stalk interruption syndrome 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 76
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 186 40 672 465 68 0 1431
Counsyl 4 210 59 20 0 0 293
Illumina Clinical Services Laboratory,Illumina 0 0 211 41 36 0 288
Natera, Inc. 10 1 117 57 42 0 227
Ambry Genetics 12 1 54 53 31 0 151
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 7 0 110 4 29 0 150
Genetic Services Laboratory, University of Chicago 6 0 63 36 10 0 115
GeneDx 45 12 12 11 3 0 83
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 77 0 0 0 0 77
Athena Diagnostics Inc 1 1 24 10 17 0 53
CeGaT Praxis fuer Humangenetik Tuebingen 8 4 29 4 0 0 45
Baylor Genetics 8 0 24 0 0 0 32
PreventionGenetics, PreventionGenetics 0 0 0 15 12 0 27
Integrated Genetics/Laboratory Corporation of America 12 9 1 1 3 0 26
Fulgent Genetics,Fulgent Genetics 4 2 19 1 0 0 26
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 18 0 0 0 18
OMIM 16 0 0 0 0 0 16
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 14 0 15
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 4 10 0 14
Mendelics 3 0 3 4 1 0 11
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 8 0 0 0 0 10
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 9 0 0 0 10
Service de Génétique Moléculaire,Hôpital Robert Debré 1 5 0 2 0 0 8
Department of Molecular and Human Genetics, Baylor College of Medicine 7 0 0 0 0 0 7
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 6 0 6
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
Institute of Human Genetics, University of Leipzig Medical Center 0 1 3 2 0 0 6
Lineagen, Inc 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
Molecular Genetics Laboratory,Institute for Ophthalmic Research 4 0 0 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 2 1 0 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 2 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 1 0 1 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 3 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 0 2 2 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 2 0 3
GeneReviews 3 0 0 0 0 0 3
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 1 1 1 0 0 0 3
Nilou-Genome Lab 0 0 2 1 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 2 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 0 2
Department of Psychiatry,Nagoya University 0 2 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
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 1
ISCA site 4 0 0 1 0 0 0 1
Institute of Human Genetics, 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
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 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
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 0 0 1 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 0 1
Genomics Facility,Ludwig-Maximilians-Universität München 1 0 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1
Pars Genome Lab 0 0 0 1 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

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