Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036990 | SCV000060646 | uncertain significance | not specified | 2012-07-06 | criteria provided, single submitter | clinical testing | The Ala1208Val variant in RBM20 has not been reported in the literature nor prev iously identified by our laboratory. Computational analyses (biochemical amino a cid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that this variant may not impact the protein, though this information is not predictive en ough to rule out pathogenicity. Additional information is needed to fully assess the clinical significance of this variant. |
Gene |
RCV001719738 | SCV000516558 | uncertain significance | not provided | 2023-09-12 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000036990 | SCV000740663 | uncertain significance | not specified | 2016-11-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000803243 | SCV000943105 | likely benign | Dilated cardiomyopathy 1DD | 2023-10-16 | criteria provided, single submitter | clinical testing |