Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000551473 | SCV000622201 | likely benign | Supravalvar aortic stenosis | 2023-08-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003320668 | SCV004025875 | uncertain significance | not provided | 2023-08-14 | 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 |