Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
All of Us Research Program, |
RCV004016210 | SCV004828385 | uncertain significance | Ehlers-Danlos syndrome, type 4 | 2024-03-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV004767521 | SCV005378027 | uncertain significance | not provided | 2023-10-25 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; 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; Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD) |