Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152623 | SCV000201935 | uncertain significance | not specified | 2013-10-05 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Val1165Leu vari ant in USH2A has not been reported in individuals with hearing loss or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Val1165Leu varian t may not impact the protein, though this information is not predictive enough t o rule out pathogenicity. In summary, the clinical significance of this variant cannot be determined with certainty; however based upon conservation and computa tional data, we would lean towards a more likely benign role. |
Ce |
RCV000487610 | SCV000574822 | uncertain significance | not provided | 2016-10-01 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000670960 | SCV000795887 | uncertain significance | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2017-11-21 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003453139 | SCV004182337 | uncertain significance | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003453138 | SCV004182338 | uncertain significance | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |