Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000232124 | SCV000286345 | likely benign | Primary ciliary dyskinesia | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002478849 | SCV002801122 | likely benign | Spermatogenic failure 46 | 2022-01-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003151760 | SCV003840345 | uncertain significance | not provided | 2023-04-17 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |