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
27 53 37 3 0 6 112

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 not provided total
GLB1 25 51 37 3 6 108
GLB1, TMPPE 2 2 0 0 0 4

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Counsyl 8 47 35 3 0 93
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 16 4 0 0 0 20
Laboratory of Molecular Genetics; Faculty of Medical Sciences - University of Campinas 0 0 0 0 6 6
Fulgent Genetics 1 3 1 0 0 5
OMIM 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology 2 0 0 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 1

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