Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000485685 | SCV000572084 | uncertain significance | not provided | 2023-09-25 | criteria provided, single submitter | clinical testing | Reported previously in an individual with susceptibility to malignant hyperthermia who also harbored another CACNA1S variant, as well as a variant in RYR1 (Gillies et al., 2015); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25735680) |
Invitae | RCV000697159 | SCV000825755 | likely benign | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV001288113 | SCV001474979 | benign | not specified | 2020-04-17 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001724025 | SCV001950008 | uncertain significance | Malignant hyperthermia, susceptibility to, 5 | 2021-08-03 | criteria provided, single submitter | clinical testing |