Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041883 | SCV000065579 | likely benign | not specified | 2013-08-06 | criteria provided, single submitter | clinical testing | Lys209Lys variant in Exon 3 of USH2A: This variant is not expected to have clini cal significance because it does not alter an amino acid residue and is not loca ted near a splice junction. |
Invitae | RCV002054839 | SCV002480805 | likely benign | not provided | 2020-11-21 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450871 | SCV004182963 | likely benign | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450870 | SCV004182964 | likely benign | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |