Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001062812 | SCV001227635 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001552668 | SCV001773401 | uncertain significance | not provided | 2021-02-24 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |