Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000529698 | SCV000624171 | likely benign | Primary ciliary dyskinesia | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003441910 | SCV004168675 | uncertain significance | not provided | 2023-04-27 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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 |