Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002230789 | SCV000547882 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001566561 | SCV001790102 | uncertain significance | not provided | 2022-02-17 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function |