Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000419892 | SCV000524684 | uncertain significance | not provided | 2023-07-26 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Reported as a variant of uncertain significance in one individual from a cohort of patients with suspected malignant hyperthermia (Hudig et al., 2019); This variant is associated with the following publications: (PMID: 30864471) |
Ce |
RCV000419892 | SCV001150574 | uncertain significance | not provided | 2019-04-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001243309 | SCV001416457 | likely benign | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 | 2023-11-07 | criteria provided, single submitter | clinical testing |