Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Integrated Genetics/Laboratory Corporation of America | RCV000029810 | SCV000052465 | likely benign | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Likely benign. |
ARUP Laboratories, |
RCV000506326 | SCV000603790 | likely benign | not specified | 2017-01-24 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000762558 | SCV000892889 | likely benign | not provided | 2018-04-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000029810 | SCV001012942 | likely benign | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2019-12-31 | criteria provided, single submitter | clinical testing |