Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000114378 | SCV000148001 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2021-03-09 | no assertion criteria provided | literature only | Severe classic pathogenic variant. A complex deletion that involves a 3,163-bp deletion of the GALT promoter and a 5' gene region along with a 2,295-bp deletion at the 3' end of the gene. |