Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001513813 | SCV001721501 | benign | Glycogen storage disease XV; Polyglucosan body myopathy type 2 | 2023-11-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001576603 | SCV001803828 | uncertain significance | not provided | 2023-04-24 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this variant does not alter splicing |