Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Pediatric/Medical Genetics, |
RCV003329486 | SCV004036022 | benign | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | criteria provided, single submitter | clinical testing | ||
Center for Genomic Medicine, |
RCV003329486 | SCV004807821 | likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2024-03-29 | criteria provided, single submitter | clinical testing |