Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001219155 | SCV001391076 | likely benign | Alpha thalassemia-X-linked intellectual disability syndrome | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001587239 | SCV001817174 | uncertain significance | not provided | 2020-08-25 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function |