Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649130 | SCV000770955 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2022-03-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001756083 | SCV001997753 | uncertain significance | not provided | 2020-01-09 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Reported as a variant of uncertain significance by another clinical laboratory in ClinVar (ClinVar Variant ID# 539400; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect |
Revvity Omics, |
RCV001756083 | SCV003833066 | uncertain significance | not provided | 2020-07-14 | criteria provided, single submitter | clinical testing |