Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000598600 | SCV000709938 | pathogenic | not provided | 2018-02-09 | criteria provided, single submitter | clinical testing | The R5688X nonsense variant in the GPR98 gene has been reported previously in association with Usher syndrome type 2 (Besnard et al., 2012). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). In summary, we consider the variant to be pathogenic. |
Fulgent Genetics, |
RCV000763551 | SCV000894368 | pathogenic | Usher syndrome, type 2C; Febrile seizures, familial, 4 | 2018-10-31 | criteria provided, single submitter | clinical testing |