Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000622376 | SCV000740366 | uncertain significance | Primary familial dilated cardiomyopathy | 2017-04-28 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002506513 | SCV002816986 | uncertain significance | Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 | 2021-07-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003238785 | SCV003936632 | uncertain significance | not provided | 2022-12-29 | criteria provided, single submitter | clinical testing | 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; Has not been previously published as pathogenic or benign to our knowledge |