Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041816 | SCV000065512 | likely benign | not specified | 2011-03-14 | criteria provided, single submitter | clinical testing | Thr911Asn in exon 13 of USH2A: This variant has been reported in 1 individual wi th retinitis pigmentosa (Seyedahmadi 2004, McGee 2010). However, this variant is not expected to have clinical significance because the Thr911 residue is not we ll conserved, even in mammals, and the Thr911Asn variant was identified in an in dividual who has an alternate etiology for Usher syndrome. |