Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000730245 | SCV000857970 | pathogenic | not provided | 2017-11-09 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003461006 | SCV004198510 | likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-09-21 | criteria provided, single submitter | clinical testing |