Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Diagnostic Laboratory, |
RCV000207933 | SCV000262769 | likely pathogenic | X-linked Alport syndrome | 2016-02-02 | criteria provided, single submitter | clinical testing | |
Precision Medicine Center, |
RCV000207933 | SCV001593066 | uncertain significance | X-linked Alport syndrome | criteria provided, single submitter | research | PM2:not found in gnomAD | |
Gene |
RCV001753626 | SCV001985730 | uncertain significance | not provided | 2020-12-28 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact 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: 26934356) |