Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Research and Development, |
RCV000031852 | SCV000042720 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2012-12-04 | no assertion criteria provided | clinical testing | Converted during submission to Pathogenic. |
Integrated Genetics/Laboratory Corporation of America | RCV000031852 | SCV000052474 | uncertain significance | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2015-10-02 | no assertion criteria provided | clinical testing |