Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001075747 | SCV001241377 | likely pathogenic | Retinal dystrophy | 2019-05-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001862631 | SCV002229973 | pathogenic | not provided | 2024-01-07 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 27 of the USH2A gene. It does not directly change the encoded amino acid sequence of the USH2A protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with USH2A-related conditions (PMID: 26629787; Invitae). ClinVar contains an entry for this variant (Variation ID: 867167). Studies have shown that this variant alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 26629787). For these reasons, this variant has been classified as Pathogenic. |
Institute of Medical Genetics and Applied Genomics, |
RCV003127624 | SCV003802706 | likely pathogenic | Retinitis pigmentosa 39 | 2023-02-13 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003127624 | SCV004172120 | likely pathogenic | Retinitis pigmentosa 39 | 2023-04-11 | criteria provided, single submitter | clinical testing |