Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039203 | SCV000062887 | likely benign | not specified | 2010-12-06 | criteria provided, single submitter | clinical testing | Val1734Met in exon 41 of CDH23: This variant has not been reported in the litera ture. Computational analyses (biochemical amino acid properties, homology, PolyP hen, SIFT, AlignGVGD) do not provide strong support for pathogenicity. In additi on, this variant was found in a patient with two pathogenic variants which suffi ciently explained their hearing loss. In summary, this data suggests this varian t is more likely benign. |