Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000638882 | SCV000760436 | likely benign | Shprintzen-Goldberg syndrome | 2022-09-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001556997 | SCV001778683 | uncertain significance | not provided | 2023-03-27 | 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 |