ClinVar Miner

Variants in gene GLB1

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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
204 197 293 505 75 33 1119

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 172 64 144 456 24 1 860
not provided 47 17 41 46 56 4 196
GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 31 72 39 4 0 0 137
Mucopolysaccharidosis, MPS-IV-B 29 21 35 11 13 1 103
GM1 gangliosidosis 29 17 34 9 4 10 100
Infantile GM1 gangliosidosis 36 19 15 4 10 10 88
not specified 0 0 31 7 12 0 48
Inborn genetic diseases 5 3 24 7 0 0 39
GLB1-related disorder 9 4 1 12 5 1 32
GM1 gangliosidosis type 2 13 4 8 0 1 7 31
GM1 gangliosidosis type 3 8 1 8 0 1 0 17
GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Infantile GM1 gangliosidosis 0 15 0 0 0 0 15
GM1-gangliosidosis, type I, with cardiac involvement 5 0 0 0 0 0 5
Intellectual disability 0 0 0 3 0 0 3
Morquio syndrome 0 0 2 0 0 0 2
See cases 0 1 1 0 0 0 2
Ependymoma 0 0 1 0 0 0 1
Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 0 0 0 0 0 1 1
Progressive familial intrahepatic cholestasis 1 0 0 0 0 0 1
Schizophrenia 0 0 1 0 0 0 1
Spastic ataxia 1 0 0 0 0 0 1
Spondyloepiphyseal dysplasia 1 0 0 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
Labcorp Genetics (formerly Invitae), Labcorp 172 64 144 456 24 0 860
GeneDx 28 7 9 25 51 0 120
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 38 22 30 2 2 0 94
Counsyl 10 46 34 3 0 0 93
Fulgent Genetics, Fulgent Genetics 27 36 5 0 0 0 68
Illumina Laboratory Services, Illumina 3 2 32 9 5 0 50
Breakthrough Genomics, Breakthrough Genomics 0 0 4 21 21 0 46
Eurofins Ntd Llc (ga) 19 4 10 0 9 0 42
Ambry Genetics 5 3 24 7 0 0 39
PreventionGenetics, part of Exact Sciences 4 2 1 15 11 0 33
CeGaT Center for Human Genetics Tuebingen 9 3 5 11 5 0 33
OMIM 27 0 0 0 0 0 27
GenomeConnect - GM1 0 0 0 0 0 22 22
Mayo Clinic Laboratories, Mayo Clinic 1 2 7 2 6 0 18
Revvity Omics, Revvity 12 1 2 0 0 0 15
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 6 4 0 0 0 15
Myriad Genetics, Inc. 0 15 0 0 0 0 15
Pars Genome Lab 0 0 0 3 10 0 13
Neuberg Centre For Genomic Medicine, NCGM 5 3 5 0 0 0 12
Mendelics 5 1 3 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 1 3 0 0 0 9
Baylor Genetics 6 1 1 0 0 0 8
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 5 2 1 0 0 0 8
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 0 0 0 4 0 7
Genome-Nilou Lab 1 0 4 1 1 0 7
GeneReviews 0 0 0 0 0 6 6
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 5 0 0 0 6
Laboratory of Molecular Genetics MedGen 0 0 0 0 0 6 6
3billion 1 2 2 1 0 0 6
MGZ Medical Genetics Center 1 3 1 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 4 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 1 0 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 1 3 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 0 1 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 2 0 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 0 3 0 0 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 3 0 0 0 0 4
Centogene AG - the Rare Disease Company 3 0 0 0 0 0 3
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 3 0 0 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 3 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 2 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 0 0 1 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 1 1 0 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Blueprint Genetics 0 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 1
McDonnell Genome Institute, Washington University in St. Louis 0 0 1 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Biological Sciences, International Islamic University, Islamabad 1 0 0 0 0 0 1
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 0 0 0 1
Department Of Obstetrics And Gynecology, Genetic And Prenatal Diagnosis Center 0 1 0 0 0 0 1

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