Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039210 | SCV000062894 | uncertain significance | not specified | 2011-11-02 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Asp1785Asn vari ant in CDH23 has not been reported in the literature nor previously identified b y our laboratory. Computational analyses (biochemical amino acid properties, hom ology, PolyPhen2, SIFT, AlignGVGD) do not provide strong support for or against pathogenicity. In summary, the clinical significance of this variant cannot be d etermined with certainty at this time. |
Natera, |
RCV001831668 | SCV002089419 | uncertain significance | Usher syndrome type 1 | 2019-10-28 | no assertion criteria provided | clinical testing |