Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003891287 | SCV001070669 | likely benign | Ehlers-Danlos syndrome progeroid type | 2023-09-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001585869 | SCV001813860 | uncertain significance | not provided | 2021-03-31 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |