Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522416 | SCV000618857 | uncertain significance | not provided | 2020-08-28 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |
Invitae | RCV003640907 | SCV004540219 | likely benign | KBG syndrome | 2022-11-02 | criteria provided, single submitter | clinical testing |