Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001771976 | SCV001992846 | uncertain significance | not provided | 2023-07-12 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect |
Invitae | RCV001771976 | SCV002492350 | likely benign | not provided | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001771976 | SCV003829939 | uncertain significance | not provided | 2020-03-30 | criteria provided, single submitter | clinical testing |