Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000150275 | SCV000197293 | uncertain significance | not specified | 2015-02-18 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Asn434Ser var iant in CDH23 has been previously identified by our laboratory in 1 individual w ith hearing loss who did not carry a second CDH23 variant. This variant has also been identified in 0.2% (24/9802) of African chromosomes by the Exome Aggregati on Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs139287714). Althoug h this variant has been seen in the general population, its frequency is not hig h enough to rule out a pathogenic role. Computational prediction tools and conse rvation analyses suggest that this variant may impact the protein, though this i nformation is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant cannot be determined with certainty; howev er, the frequency data suggest that it is more likely to be benign. |
| Gene |
RCV000731528 | SCV000570876 | uncertain significance | not provided | 2021-09-02 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
| Eurofins Ntd Llc |
RCV000731528 | SCV000859359 | uncertain significance | not provided | 2018-02-01 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000731528 | SCV001059653 | likely benign | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV001275925 | SCV001461605 | uncertain significance | Usher syndrome type 1 | 2020-01-08 | no assertion criteria provided | clinical testing |