Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734936 | SCV000863116 | uncertain significance | not provided | 2018-08-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000734936 | SCV002002267 | uncertain significance | not provided | 2020-07-02 | criteria provided, single submitter | clinical testing | Not observed 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 |