Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000159358 | SCV000209304 | uncertain significance | not provided | 2022-09-28 | criteria provided, single submitter | clinical testing | Variant present in an alternate transcript, NM_001018020.1; Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Color Diagnostics, |
RCV001178563 | SCV001343034 | likely benign | Cardiomyopathy | 2019-08-15 | criteria provided, single submitter | clinical testing |