Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000903455 | SCV001047922 | benign | Pityriasis rubra pilaris; Psoriasis 2 | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002264072 | SCV002543332 | uncertain significance | Autoinflammatory syndrome | 2019-12-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003156299 | SCV003845729 | uncertain significance | not provided | 2022-09-20 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |