Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000087227 | SCV003798877 | uncertain significance | not provided | 2023-01-31 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Splicing predictors suggest this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge |
Richard Lifton Laboratory, |
RCV000087227 | SCV000120090 | unknown | not provided | flagged submission | not provided | Converted during submission to Uncertain significance. | |
Richard Lifton Laboratory, |
RCV000087227 | SCV000155194 | unknown | not provided | no assertion criteria provided | not provided | Converted during submission to Uncertain significance. |