Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734772 | SCV000862941 | uncertain significance | not provided | 2018-08-14 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV000734772 | SCV000927975 | likely pathogenic | not provided | 2018-10-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000734772 | SCV001990204 | uncertain significance | not provided | 2019-07-22 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency 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 |