Submitter |
RCV |
SCV |
Clinical significance |
Condition |
Last evaluated |
Review status |
Method |
Comment |
Centogene AG - the Rare Disease Company |
RCV001251175 |
SCV001426522 |
likely pathogenic |
Congenital myopathy 4B, autosomal recessive |
|
criteria provided, single submitter |
clinical testing |
|
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