Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002195070 | SCV002359573 | likely benign | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002195070 | SCV004168149 | uncertain significance | not provided | 2023-05-03 | criteria provided, single submitter | clinical testing | In silico analysis supports that this variant does not alter protein function; Has not been previously published as pathogenic or benign to our knowledge; Reported using an alternate transcript of the gene |