Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000878923 | SCV001021915 | likely benign | Non-ketotic hyperglycinemia | 2023-12-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001556099 | SCV001777617 | uncertain significance | not provided | 2022-04-21 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |