Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000919963 | SCV001065320 | likely benign | Bethlem myopathy 1 | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001772168 | SCV001992271 | uncertain significance | not provided | 2019-04-19 | 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. |