Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002537847 | SCV003463274 | likely benign | not provided | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002537847 | SCV004023880 | uncertain significance | not provided | 2023-02-06 | 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 |
Natera, |
RCV001279404 | SCV001466499 | uncertain significance | Usher syndrome type 1B | 2020-04-16 | no assertion criteria provided | clinical testing |