Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041700 | SCV000065396 | uncertain significance | not specified | 2011-03-08 | criteria provided, single submitter | clinical testing | The Ile3883Met variant in USH2A has not been reported in the literature nor prev iously identified by our laboratory. Computational analyses (biochemical amino a cid properties, homology, PolyPhen, SIFT, AlignGVGD) do not provide strong suppo rt for or against pathogenicity. In summary, the clinical significance of this v ariant cannot be determined with certainty at this time. |
Counsyl | RCV000668179 | SCV000792739 | uncertain significance | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2017-07-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450750 | SCV004182091 | uncertain significance | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450749 | SCV004182093 | uncertain significance | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |