Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000155430 | SCV000732274 | likely benign | not specified | 2017-10-23 | 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. |
Color Diagnostics, |
RCV001186006 | SCV001352331 | likely benign | Cardiomyopathy | 2019-01-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002516129 | SCV002463231 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003736608 | SCV004562259 | likely benign | not provided | 2023-09-06 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000155430 | SCV000205120 | not provided | not specified | 2012-12-04 | no assertion provided | clinical testing | The 3067-16_3067-15delCT variant in RYR2 has not been reported in the literature nor previously identified by our laboratory. This variant has been identified in 0.1% (4/3682) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing, though this information is not predictive enough to rule out pathogenicity. Additional information is needed to fully assess its clinical significance. |