Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000517608 | SCV000615844 | likely benign | not specified | 2016-12-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002527552 | SCV000814461 | likely benign | Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003231629 | SCV003929888 | uncertain significance | not provided | 2022-12-05 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |