Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001315390 | SCV001505960 | likely benign | Primary ciliary dyskinesia | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003442840 | SCV004170414 | uncertain significance | not provided | 2023-05-11 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |