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
646 462 2203 2614 249 14 5690

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cohen syndrome 601 434 1976 2459 156 10 5279
not provided 93 33 266 166 119 6 639
Inborn genetic diseases 18 2 283 120 35 0 458
VPS13B-related condition 4 7 206 201 7 0 425
not specified 0 0 112 64 48 0 196
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; 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 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

Submitter and significance breakdown #

Total submitters: 106
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 540 109 1663 2389 126 0 4827
Natera, Inc. 22 11 445 90 70 0 638
Ambry Genetics 18 2 283 120 35 0 458
PreventionGenetics, part of Exact Sciences 4 7 206 216 19 0 452
GeneDx 57 20 92 91 112 0 372
Counsyl 4 210 59 20 0 0 293
Illumina Laboratory Services, Illumina 1 0 212 41 36 0 290
Eurofins Ntd Llc (ga) 7 0 110 4 29 0 150
Genetic Services Laboratory, University of Chicago 6 0 89 41 10 0 146
CeGaT Center for Human Genetics Tuebingen 11 7 37 65 3 0 123
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 21 21 18 5 12 0 77
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 77 0 0 0 0 77
Fulgent Genetics, Fulgent Genetics 11 5 53 2 1 0 72
Athena Diagnostics Inc 1 1 29 11 17 0 59
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
Clinical Genetics, Academic Medical Center 0 1 4 27 6 0 38
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
Mayo Clinic Laboratories, Mayo Clinic 0 1 22 0 0 0 23
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
Mendelics 4 0 3 4 3 0 14
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 6 8 0 0 0 0 14
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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 2 1 6 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
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 3 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
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, 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
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 1 1 0 0 0 6
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
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
3billion 2 1 1 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 2 0 3
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
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
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 1 1 0 0 0 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
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
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 2 0 0 0 2
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 2 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
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 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 0 1 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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 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
Department of Human Genetics, Hannover Medical School 0 1 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

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