Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649088 | SCV000770913 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-09-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001771892 | SCV001992732 | uncertain significance | not provided | 2019-06-19 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function |
Revvity Omics, |
RCV001771892 | SCV003833181 | uncertain significance | not provided | 2019-01-10 | criteria provided, single submitter | clinical testing |