Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154823 | SCV000204505 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | p.Lys3297Lys in exon 68 of RYR2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 1/6608 European A merican chromosomes from a broad population by the NHLBI Exome Sequencing Projec t (http://evs.gs.washington.edu/EVS). |
Gene |
RCV001719962 | SCV000521999 | likely benign | not provided | 2021-02-25 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001186004 | SCV001352329 | likely benign | Cardiomyopathy | 2018-12-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002516110 | SCV001690506 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-10-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381493 | SCV002690961 | likely benign | Cardiovascular phenotype | 2019-12-03 | 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. |