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
18 43 39 3 0 6 104

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 18 42 39 3 6 103
GLB1, TMPPE 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Counsyl 9 41 35 3 0 88
Laboratory of Molecular Genetics MedGen 0 0 0 0 6 6
Fulgent Genetics,Fulgent Genetics 1 3 1 0 0 5
Mendelics 3 0 1 0 0 4
Baylor Genetics 3 0 0 0 0 3
OMIM 2 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 2
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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