Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002240405 | SCV001226953 | benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-12-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001759822 | SCV002007567 | uncertain significance | not provided | 2020-08-21 | 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 |