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
90 87 117 104 24 20 347

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 58 17 20 80 7 1 182
not provided 31 10 22 15 12 4 92
GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 9 42 36 3 0 0 89
GM1 gangliosidosis 15 4 33 9 4 7 71
Mucopolysaccharidosis, MPS-IV-B 18 8 33 8 5 1 70
Infantile GM1 gangliosidosis 23 6 3 0 0 1 33
GM1 gangliosidosis type 2 11 0 4 0 0 6 20
not specified 0 0 2 5 11 0 16
GM1 gangliosidosis type 3 6 1 1 0 0 0 7
GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Infantile GM1 gangliosidosis 0 4 1 0 0 0 5
GM1-gangliosidosis, type I, with cardiac involvement 5 0 0 0 0 0 5
Inborn genetic diseases 2 2 0 0 0 0 4
Intellectual disability 0 0 0 3 0 0 3
Morquio syndrome 0 0 3 0 0 0 3
Ependymoma 0 0 1 0 0 0 1
GLB1-Related Disorders 1 0 0 0 0 0 1
See cases 0 0 1 0 0 0 1
none provided 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 58 17 20 89 7 0 191
Counsyl 10 46 35 3 0 0 94
Illumina Clinical Services Laboratory,Illumina 3 2 35 9 5 0 51
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 19 4 10 0 9 0 42
OMIM 26 0 0 0 0 0 26
GeneDx 10 3 1 2 7 0 23
Integrated Genetics/Laboratory Corporation of America 14 3 3 0 0 0 20
CeGaT Praxis fuer Humangenetik Tuebingen 6 2 5 2 0 0 15
GenomeConnect - GM1 0 0 0 0 0 13 13
Mayo Clinic Laboratories, Mayo Clinic 1 1 2 2 6 0 12
Baylor Genetics 8 1 1 0 0 0 10
PreventionGenetics, PreventionGenetics 0 0 0 3 7 0 10
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 3 0 0 0 6
Laboratory of Molecular Genetics MedGen 0 0 0 0 0 6 6
Mendelics 3 0 2 0 0 0 5
Fulgent Genetics,Fulgent Genetics 1 3 1 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 1 0 0 0 0 5
Ambry Genetics 2 2 0 0 0 0 4
Myriad Women's Health, Inc. 0 4 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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 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
Gharavi Laboratory,Columbia University 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare 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
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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 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
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

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