Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152571 | SCV000201822 | likely benign | not specified | 2013-06-11 | criteria provided, single submitter | clinical testing | Pro4154Pro in exon 63 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and it is not located within the splice consensus sequence. |