ClinVar Miner

Variants from Neuromuscular Research, Maastricht University Medical Centre

Location: Netherlands  Primary collection method: clinical testing
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
48 0 0 0 14 61

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic benign total
DM1, DMPK, LOC107075317, LOC109461477 48 12 59
DM1, DMPK, LOC107075317, LOC109461477, LOC129929040 0 2 2

Condition and significance breakdown #

Total conditions: 1
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Condition pathogenic benign total
Steinert myotonic dystrophy syndrome 48 14 61

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