Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000494517 | SCV000581967 | uncertain significance | not provided | 2022-12-13 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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 | RCV000688405 | SCV000816015 | benign | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 | 2023-12-16 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001262359 | SCV001440192 | uncertain significance | Hypokalemic periodic paralysis, type 1 | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002481562 | SCV002786270 | uncertain significance | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 | 2021-11-10 | criteria provided, single submitter | clinical testing |