Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000338949 | SCV000404241 | likely benign | Glycogen storage disease due to muscle beta-enolase deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000338949 | SCV001717886 | benign | Glycogen storage disease due to muscle beta-enolase deficiency | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000675377 | SCV001866467 | benign | not provided | 2016-01-18 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000675377 | SCV000801043 | benign | not provided | 2015-10-22 | no assertion criteria provided | clinical testing |