Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002104230 | SCV002433526 | likely benign | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2022-02-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002104230 | SCV002797320 | likely benign | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2022-05-11 | criteria provided, single submitter | clinical testing |