Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Arab Genomic Studies, |
RCV000590850 | SCV000693884 | likely pathogenic | PMM2-congenital disorder of glycosylation | 2017-07-15 | criteria provided, single submitter | clinical testing |