Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001064502 | SCV001229408 | likely benign | not provided | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001064502 | SCV002007099 | uncertain significance | not provided | 2020-05-13 | 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 |