Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284492 | SCV001470319 | pathogenic | not provided | 2020-07-17 | criteria provided, single submitter | clinical testing | The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data. |
The ITHANET community portal, |
RCV001078436 | SCV001244655 | pathogenic | beta Thalassemia | 2019-11-25 | no assertion criteria provided | curation |