ClinVar Miner

Variants studied for GM1 gangliosidosis type 1

Included ClinVar conditions (3):
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
44 74 51 7 12 8 182

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GLB1 41 71 49 7 10 8 173
GLB1, LOC129936434, TMPPE 3 3 2 0 2 0 9

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 9 41 34 3 0 0 87
Fulgent Genetics, Fulgent Genetics 10 4 4 0 0 0 18
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 6 8 2 0 0 0 16
Myriad Genetics, Inc. 0 15 0 0 0 0 15
Pars Genome Lab 0 0 0 3 12 0 15
OMIM 11 0 0 0 0 0 11
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 7 2 1 0 0 0 10
Genome-Nilou Lab 1 0 4 1 3 0 9
Baylor Genetics 5 1 1 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 3 2 2 0 0 0 7
GeneReviews 0 0 0 0 0 6 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 1 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 4 0 0 0 5
Mendelics 2 1 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
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
GenomeConnect - GM1 0 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 0 2
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
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 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
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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