Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039204 | SCV000062888 | uncertain significance | not specified | 2013-03-09 | criteria provided, single submitter | clinical testing | The Asn1740Ile variant in CDH23 has not been reported in affected individuals or in large population studies. Computational analyses (biochemical amino acid pro perties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong sup port for or against an impact to the protein. In summary, additional data is ne eded to determine the clinical significance of this variant. |