Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000512867 | SCV000609047 | uncertain significance | not provided | 2017-04-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000512867 | SCV002030996 | uncertain significance | not provided | 2021-06-01 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (Lek et al., 2016); 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; This variant is associated with the following publications: (PMID: 26582918, 27535533) |