Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000365123 | SCV000404250 | likely benign | Glycogen storage disease due to muscle beta-enolase deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000365123 | SCV001121512 | benign | Glycogen storage disease due to muscle beta-enolase deficiency | 2024-01-29 | criteria provided, single submitter | clinical testing |