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
188 158 255 487 74 31 1036

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 163 60 138 441 24 1 826
not provided 45 15 31 38 54 4 179
GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 15 42 36 3 0 0 93
Mucopolysaccharidosis, MPS-IV-B 23 15 36 11 13 1 92
GM1 gangliosidosis 23 6 33 9 4 10 82
Infantile GM1 gangliosidosis 36 16 11 4 10 8 80
not specified 0 1 12 6 12 0 29
GM1 gangliosidosis type 2 11 1 9 0 1 7 27
Inborn genetic diseases 4 2 13 1 0 0 20
GLB1-related condition 2 0 1 13 3 0 19
GM1 gangliosidosis type 3 8 1 7 0 1 0 16
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
GLB1-Related Disorders 2 0 0 0 0 1 3
Intellectual disability 0 0 0 3 0 0 3
GLB1-related disorder 1 1 0 0 0 0 2
Morquio syndrome 0 0 2 0 0 0 2
Ependymoma 0 0 1 0 0 0 1
Schizophrenia 0 0 1 0 0 0 1
See cases 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: 72
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 163 60 138 441 24 0 826
GeneDx 26 5 7 25 51 0 114
Counsyl 10 46 34 3 0 0 93
Illumina Laboratory Services, Illumina 3 2 33 9 5 0 50
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 25 8 11 1 2 0 47
Eurofins Ntd Llc (ga) 19 4 10 0 9 0 42
CeGaT Center for Human Genetics Tuebingen 8 3 4 11 3 0 29
PreventionGenetics, part of Exact Sciences 2 0 1 16 9 0 28
OMIM 27 0 0 0 0 0 27
Ambry Genetics 4 2 13 1 0 0 20
GenomeConnect - GM1 0 0 0 0 0 19 19
Fulgent Genetics, Fulgent Genetics 10 4 4 0 0 0 18
Revvity Omics, Revvity 12 1 2 0 0 0 15
Mayo Clinic Laboratories, Mayo Clinic 1 2 4 2 6 0 15
Myriad Genetics, Inc. 0 15 0 0 0 0 15
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 6 3 0 0 0 14
Pars Genome Lab 0 0 0 3 10 0 13
Mendelics 5 1 3 0 0 0 9
Baylor Genetics 6 1 1 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 1 2 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
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 3 1 3 0 0 0 7
GeneReviews 0 0 0 0 0 6 6
Laboratory of Molecular Genetics MedGen 0 0 0 0 0 6 6
MGZ Medical Genetics Center 1 3 1 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
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 0 3 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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 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
3billion 0 1 2 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
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 1 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
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
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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 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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