Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000022213 | SCV000796738 | likely benign | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2017-12-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000022213 | SCV001635966 | likely benign | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-01-08 | criteria provided, single submitter | clinical testing |