Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biochemistry and Genetic Laboratory, |
RCV001264383 | SCV001441513 | pathogenic | SSR4-congenital disorder of glycosylation | 2015-08-13 | no assertion criteria provided | clinical testing | Type 1 serum sialotransferrin profile Variant inherited de novo |