Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000733693 | SCV000861786 | pathogenic | not provided | 2018-06-06 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000119801 | SCV000154726 | pathogenic | Congenital disorder of glycosylation type 1t | 2014-02-06 | no assertion criteria provided | literature only |