Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001435913 | SCV001638746 | likely benign | Bethlem myopathy 1A | 2023-10-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000932923 | SCV001780043 | uncertain significance | not provided | 2019-12-05 | 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, supports that this variant does not alter protein structure/function |
Revvity Omics, |
RCV000932923 | SCV003832904 | uncertain significance | not provided | 2019-11-14 | criteria provided, single submitter | clinical testing |