Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000078697 | SCV000110557 | other | not provided | 2018-06-07 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000003866 | SCV000024031 | pathogenic | UDPglucose-4-epimerase deficiency | 1998-01-01 | no assertion criteria provided | literature only | |
Gene |
RCV000003866 | SCV000040661 | pathologic | UDPglucose-4-epimerase deficiency | 2011-01-25 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |