Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000517382 | SCV000613668 | uncertain significance | not specified | 2017-03-16 | criteria provided, single submitter | clinical testing | |
Institute Of Human Genetics Munich, |
RCV000995564 | SCV001149804 | pathogenic | Apparent mineralocorticoid excess | 2018-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001570971 | SCV001795349 | uncertain significance | not provided | 2023-09-27 | criteria provided, single submitter | clinical testing | Observed in an unrelated patient with mineralocorticoid excess in published literature; no detailed information available (Rodriguez-Flores et al., 2014); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 29229831, 25593612, 24123366) |