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
179 315 678 311 100 6 1353

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cohen syndrome 112 294 528 198 84 4 1093
not provided 76 17 154 73 20 2 333
not specified 0 0 74 55 38 0 142
History of neurodevelopmental disorder 1 0 51 52 31 0 135
Inborn genetic diseases 5 1 3 0 0 0 9
See cases 0 0 3 3 2 0 8
Abnormality of the eye 0 0 3 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
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

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 74 13 273 191 68 0 619
Counsyl 5 210 59 20 0 0 294
Illumina Clinical Services Laboratory,Illumina 0 0 211 41 36 0 288
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 7 0 110 4 29 0 150
Ambry Genetics 6 1 53 52 31 0 143
Genetic Services Laboratory, University of Chicago 6 0 69 34 6 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 11 14 0 51
CeGaT Praxis fuer Humangenetik Tuebingen 6 4 26 3 0 0 39
PreventionGenetics,PreventionGenetics 0 0 0 15 12 0 27
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 17 0 0 0 17
OMIM 16 0 0 0 0 0 16
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 14 0 15
Integrated Genetics/Laboratory Corporation of America 4 7 0 0 3 0 14
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
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
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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 2 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
Baylor Genetics 2 0 1 0 0 0 3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 2 0 3
GeneReviews 3 0 0 0 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
Quest Diagnostics Nichols Institute San Juan Capistrano 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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 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: University of Minnesota 0 2 0 0 0 0 2
Mayo Clinic Genetic Testing 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
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 1 0 0 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
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

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