Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000056066 | SCV000087128 | pathologic | Hypochondroplasia | 2013-09-26 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |
OMIM | RCV000056066 | SCV000115372 | pathogenic | Hypochondroplasia | 2013-08-23 | no assertion criteria provided | literature only |