Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000766345 | SCV000208062 | uncertain significance | not provided | 2019-09-09 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 180956; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000158127 | SCV000747964 | uncertain significance | not specified | 2017-06-29 | criteria provided, single submitter | clinical testing |