Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155716 | SCV000205426 | uncertain significance | not specified | 2013-04-09 | criteria provided, single submitter | clinical testing | The 897-10G>A variant in LDB3 has not been reported in individuals with cardiomy opathy, but has been identified in 1/194 Han Chinese chromosomes by the 1000 Gen omes Project (dbSNP rs77304928). This variant is located in the 3' splice region . Computational tools do not suggest an impact to splicing, though this informat ion is not predictive enough to rule out pathogenicity. In summary, additional s tudies are needed to fully assess the clinical significance of this variant. |
Gene |
RCV000155716 | SCV000528619 | likely benign | not specified | 2016-06-09 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001481761 | SCV001686111 | likely benign | Myofibrillar myopathy 4 | 2022-08-31 | criteria provided, single submitter | clinical testing |