Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041789 | SCV000065485 | likely benign | not specified | 2011-08-02 | criteria provided, single submitter | clinical testing | Met5167Ile in exon 71 of USH2A: This variant is not expected to have clinical si gnificance because computational analyses (PolyPhen2, SIFT, AlignGVGD) do not su ggest a high likelihood of clinical significance primarily based upon lack of co nservation across species. Of note, chicken has an isoleucine at this position. |