Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000707983 | SCV000837093 | uncertain significance | Diamond-Blackfan anemia | 2021-08-12 | criteria provided, single submitter | clinical testing | This variant occurs in a non-coding region of the RPS19 gene. It does not change the encoded amino acid sequence of the RPS19 protein. This variant has not been reported in the literature in individuals affected with RPS19-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |