Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000015373 | SCV000035634 | pathogenic | Merosin deficient congenital muscular dystrophy | 2008-12-01 | no assertion criteria provided | literature only | |
Gene |
RCV000015373 | SCV000054525 | pathologic | Merosin deficient congenital muscular dystrophy | 2012-06-07 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |