Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000692949 | SCV000820800 | benign | Primary ciliary dyskinesia | 2023-08-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001766489 | SCV001999180 | uncertain significance | not provided | 2019-11-09 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |