Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001239465 | SCV001412341 | likely benign | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-03-02 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001834090 | SCV002085188 | uncertain significance | Galactosemia | 2018-11-27 | no assertion criteria provided | clinical testing |