Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000179111 | SCV000231308 | uncertain significance | not provided | 2014-08-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000179111 | SCV002008739 | uncertain significance | not provided | 2019-06-27 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |