Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041945 | SCV000065641 | likely benign | not specified | 2010-11-15 | criteria provided, single submitter | clinical testing | Tyr3093Phe in exon 47 of USH2A: This variant has not been reported in the litera ture. It is not highly conserved in mammals and computational analyses (BLOSUM, PolyPhen, SIFT, AlignGVGD) all suggest that the variant will not impact the prot ein. Therefore, this variant is more likely benign. |