Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041800 | SCV000065496 | uncertain significance | not specified | 2011-09-04 | criteria provided, single submitter | clinical testing | The Arg626Gln variant in USH2A has not been reported in the literature nor previ ously identified by our laboratory. This residue is conserved across species and computational analyses (PolyPhen2, SIFT, AlignGVGD) suggest that the Arg626Gln variant may impact the protein. However, this information is not predictive enou gh to assume pathogenicity. In summary, the clinical significance of this varian t cannot be determined with certainty at this time. |
Counsyl | RCV000665675 | SCV000789834 | uncertain significance | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2017-02-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450828 | SCV004182490 | uncertain significance | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001271236 | SCV004182491 | uncertain significance | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001271236 | SCV001452252 | uncertain significance | Usher syndrome type 2A | 2020-09-16 | no assertion criteria provided | clinical testing |