Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041684 | SCV000065380 | uncertain significance | not specified | 2011-09-04 | criteria provided, single submitter | clinical testing | The Val3645Ile variant in USH2A has not been reported in the literature nor prev iously identified by our laboratory. This residue is conserved across species an d computational analyses (PolyPhen2, SIFT, AlignGVGD) suggest that the Arg626Gln variant may impact the protein. However, this information is not predictive eno ugh to assume pathogenicity. In summary, the clinical significance of this varia nt cannot be determined with certainty at this time. |
Counsyl | RCV000669823 | SCV000794612 | uncertain significance | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2017-10-02 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450745 | SCV004182154 | uncertain significance | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001271140 | SCV004182155 | uncertain significance | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001271140 | SCV001451994 | uncertain significance | Usher syndrome type 2A | 2020-09-16 | no assertion criteria provided | clinical testing |