Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000989437 | SCV001139761 | uncertain significance | Tuberous sclerosis 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003314655 | SCV004014524 | uncertain significance | not provided | 2023-01-17 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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 |