Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219104 | SCV000271565 | uncertain significance | not specified | 2015-02-24 | criteria provided, single submitter | clinical testing | The p.Asp1930Gly variant in CDH23 has not been previously reported in individual s with hearing loss, but has been identified in 1/42108 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Computa tional prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determin e pathogenicity. In summary, the clinical significance of the p.Asp1930Gly varia nt is uncertain. |
Gene |
RCV001565078 | SCV001788349 | uncertain significance | not provided | 2019-08-21 | criteria provided, single submitter | clinical testing | 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 |