ClinVar Miner

Variants studied for Neuropathy, hereditary motor and sensory, type 6B; Pontocerebellar hypoplasia, type 1E

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
2 1 0 0 0 3

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic total
SLC25A46 2 1 3

Submitter and significance breakdown #

Total submitters: 2
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Submitter pathogenic likely pathogenic total
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 1

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