ClinVar Miner

Variants studied for GM1 gangliosidosis type 2

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
37 92 46 4 3 7 169

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 36 89 46 4 1 7 163
GLB1, LOC129936434, TMPPE 1 3 0 0 2 0 6

Submitter and significance breakdown #

Total submitters: 19
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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
Myriad Genetics, Inc. 0 15 0 0 0 0 15
Genome-Nilou Lab 0 0 4 0 3 0 7
Laboratory of Molecular Genetics MedGen 0 0 0 0 0 6 6
Mendelics 3 0 1 0 0 0 4
3billion 1 2 0 1 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
OMIM 2 0 0 0 0 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
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
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 0 0 0 1
GenomeConnect - GM1 0 0 0 0 0 1 1

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