Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV001199586 | SCV001162757 | pathogenic | Usher syndrome type 2 | 2020-01-09 | criteria provided, single submitter | research | |
Blueprint Genetics | RCV001074597 | SCV001240188 | likely pathogenic | Retinal dystrophy | 2019-01-09 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002275180 | SCV002562978 | pathogenic | not provided | 2021-06-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002282422 | SCV002571067 | pathogenic | Usher syndrome | 2022-07-30 | criteria provided, single submitter | clinical testing | Variant summary: USH2A c.15063_15081delinsGC (p.Thr5022GlnfsX150) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251436 control chromosomes. c.15063_15081delinsGC has been reported in the literature as a compound heterozygous genotype in individuals affected with features of Usher Syndrome (example, Zein_2015, Weisschuh_2020, Wafa_2021). Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
Genome- |
RCV003455054 | SCV004181836 | likely pathogenic | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003455053 | SCV004181847 | likely pathogenic | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003455054 | SCV004208357 | pathogenic | Retinitis pigmentosa 39 | 2023-08-03 | criteria provided, single submitter | clinical testing |