Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041783 | SCV000065479 | likely benign | not specified | 2012-08-14 | criteria provided, single submitter | clinical testing | Pro5107Pro in exon 71 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. |
Invitae | RCV002054837 | SCV002342830 | likely benign | not provided | 2021-04-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450819 | SCV004181548 | likely benign | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450818 | SCV004181559 | likely benign | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |