Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000921878 | SCV001067292 | likely benign | Congenital disorder of deglycosylation | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001558378 | SCV001780313 | uncertain significance | not provided | 2019-12-10 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |