Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000031897 | SCV000038512 | pathogenic | Congenital hypomyelinating neuropathy 1, autosomal recessive | 2007-11-01 | no assertion criteria provided | literature only | |
Gene |
RCV000031897 | SCV000054521 | pathologic | Congenital hypomyelinating neuropathy 1, autosomal recessive | 2012-09-13 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |