Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Kariminejad - |
RCV001814216 | SCV001755439 | pathogenic | Ear malformation | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003459648 | SCV004206423 | pathogenic | Retinitis pigmentosa 39 | 2022-04-27 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003558534 | SCV004292395 | pathogenic | not provided | 2023-03-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 560525). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln2501*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000678655 | SCV000804746 | pathogenic | Usher syndrome type 2A | 2016-09-01 | no assertion criteria provided | clinical testing |