Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039266 | SCV000062950 | uncertain significance | not specified | 2011-02-14 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Pro2481Arg vari ant in CDH23 has not been reported in the literature nor previously identified b y our laboratory. This residue is conserved across species and computational ana lyses (AlignGVGD, SIFT) suggest that the Pro2481Arg variant may impact the prote in. However, this information is not predictive enough to assume pathogenicity. In summary, the clinical significance of this variant cannot be determined at th is time. |