ClinVar Miner

Variants studied for GM1 gangliosidosis type 2

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
39 83 46 4 3 7 160

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 38 80 46 4 1 7 154
GLB1, LOC129936434, TMPPE 1 3 0 0 2 0 6

Submitter and significance breakdown #

Total submitters: 22
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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 27 38 5 0 0 0 70
Genome-Nilou Lab 0 0 4 0 3 0 7
3billion 3 2 0 1 0 0 6
Laboratory of Molecular Genetics MedGen 0 0 0 0 0 6 6
First Genomix Gene Laboratory, Genetic Diagnostics Department 3 1 0 0 0 0 4
Mendelics 3 0 1 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 3 0 1 0 0 0 4
Baylor Genetics 3 0 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 2 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 2 0 0 0 0 0 2
OMIM 2 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Medical Genetics, All India Institute of Medical Sciences, Bhopal 0 1 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
GenomeConnect - GM1 0 0 0 0 0 1 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1

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