Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041790 | SCV000065486 | benign | not specified | 2011-10-12 | criteria provided, single submitter | clinical testing | Tyr5174Tyr in exon 72 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located near a splice junction, and has been identified in 19.5% (23/118) of African control chromosomes and 5.2% (301/5823) of general population control chromosomes. |
Gene |
RCV000041790 | SCV000169778 | benign | not specified | 2011-08-12 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Athena Diagnostics Inc | RCV000993539 | SCV001146606 | benign | not provided | 2019-07-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000993539 | SCV001731968 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496663 | SCV002810099 | benign | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2022-05-13 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450822 | SCV004182631 | benign | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001276135 | SCV004182642 | benign | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001276135 | SCV001461987 | benign | Usher syndrome type 2A | 2020-09-16 | no assertion criteria provided | clinical testing |