Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041951 | SCV000065647 | uncertain significance | not specified | 2011-02-17 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Pro313His varia nt in USH2A has not been reported in the literature nor previously identified by our laboratory. Computational analyses (biochemical amino acid properties, homo logy, PolyPhen2, SIFT, AlignGVGD, MAPP) do not provide strong support for or aga inst pathogenicity. In summary, the clinical significance of this variant cannot be determined with certainty at this time. |