Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000022271 | SCV000485672 | likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2016-01-25 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000022271 | SCV001163255 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | criteria provided, single submitter | clinical testing | ||
Research and Development, |
RCV000022271 | SCV000042956 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2012-12-04 | no assertion criteria provided | clinical testing | Converted during submission to Pathogenic. |