Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000379008 | SCV000352934 | likely benign | Malignant hyperthermia of anesthesia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000287248 | SCV000352935 | likely benign | Hypokalemic periodic paralysis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000692277 | SCV000820091 | likely benign | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000711148 | SCV000841476 | uncertain significance | not provided | 2018-05-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000711148 | SCV001825080 | uncertain significance | not provided | 2021-06-01 | 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; This variant is associated with the following publications: (PMID: 26582918, 27535533) |