Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000022264 | SCV001160733 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2019-04-22 | criteria provided, single submitter | research | This variant was identified as homozygous in a female individual with galactosemia. |
Intergen, |
RCV000022264 | SCV004171108 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-11-28 | criteria provided, single submitter | clinical testing |