ClinVar Miner

Variants studied for Stomatin-deficient cryohydrocytosis with neurologic defects; Dystonia 9; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12

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
3 1 5 0 0 9

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
SLC2A1 3 1 5 9

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic uncertain significance total
Fulgent Genetics 2 1 1 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 4
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 0 0 1

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