ClinVar Miner

Variants studied for Galactosemia

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
36 14 41 9 8 108

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 total
GALT 34 13 37 9 8 101
GALT, LOC130001683 2 1 4 0 0 7

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Natera, Inc. 35 13 41 8 8 105
Centogene AG - the Rare Disease Company 2 0 0 0 0 2
Illumina Laboratory Services, Illumina 0 1 0 1 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1

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