Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000994255 | SCV001147682 | likely pathogenic | not provided | 2018-11-01 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001199578 | SCV001162749 | pathogenic | Retinitis pigmentosa | 2020-01-09 | criteria provided, single submitter | research | |
Blueprint Genetics | RCV001074944 | SCV001240551 | likely pathogenic | Retinal dystrophy | 2017-08-15 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV002286426 | SCV002576452 | pathogenic | Usher syndrome type 2A | 2022-09-06 | criteria provided, single submitter | clinical testing | This variant was identified as compound heterozygous with NM_206933.4:c.13342_13347del._x000D_ Criteria applied: PVS1, PM3_STR, PM2_SUP |
Genome- |
RCV003455031 | SCV004182920 | likely pathogenic | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002286426 | SCV004182921 | likely pathogenic | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |