Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001696982 | SCV000620106 | uncertain significance | not provided | 2022-12-28 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV000524957 | SCV000658551 | likely benign | Hyperkalemic periodic paralysis | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001696982 | SCV003821312 | benign | not provided | 2023-04-13 | criteria provided, single submitter | clinical testing |