Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000894808 | SCV001038815 | likely benign | Neuronal ceroid lipofuscinosis | 2023-11-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002264990 | SCV002546593 | uncertain significance | not provided | 2022-06-28 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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 |