Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150914 | SCV000198533 | uncertain significance | not specified | 2014-11-03 | criteria provided, single submitter | clinical testing | The c.65-13T>A variant in LAMP2 has not been previously reported in individuals with cardiomyopathy. Data from large population studies are insufficient to asse ss the frequency of this variant. This variant is located in the 3' splice regio n. Computational tools do not suggest an impact to splicing. However, this infor mation is not predictive enough to determine pathogenicity. In summary, the clin ical significance of the c.65-13T>A variant is uncertain. |
Gene |
RCV000150914 | SCV000728633 | likely benign | not specified | 2017-10-30 | 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 | RCV002055977 | SCV002491278 | likely benign | Danon disease | 2024-01-18 | criteria provided, single submitter | clinical testing |