Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000517687 | SCV000612601 | likely benign | not specified | 2017-02-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000651222 | SCV000773073 | likely benign | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001755763 | SCV002007330 | uncertain significance | not provided | 2022-11-10 | 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 |