ClinVar Miner

Variants studied for GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis

Coded as:
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 total
15 43 36 4 0 95

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 total
GLB1 15 42 36 4 94
GLB1, LOC129936434, TMPPE 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Counsyl 6 41 34 3 84
Fulgent Genetics, Fulgent Genetics 10 4 4 0 18
Baylor Genetics 2 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 1
3billion 0 0 0 1 1

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