Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156023 | SCV000205736 | likely benign | not specified | 2013-09-12 | criteria provided, single submitter | clinical testing | The Glu3066Glu variant in RYR2 is not expected to have clinical significance bec ause it does not alter an amino acid residue and is not located within the splic e consensus sequence. |
Ambry Genetics | RCV002444643 | SCV002683294 | likely benign | Cardiovascular phenotype | 2021-12-16 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |