Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000872269 | SCV001014058 | likely benign | RYR1-Related Disorders | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002272377 | SCV002558374 | uncertain significance | not provided | 2022-07-22 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |