Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000182626 | SCV000234994 | benign | not specified | 2014-09-15 | 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 | RCV002517782 | SCV000285723 | benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000245095 | SCV000318672 | likely benign | Cardiovascular phenotype | 2020-06-29 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000768760 | SCV000900130 | likely benign | Cardiomyopathy | 2017-06-16 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000768760 | SCV001345861 | benign | Cardiomyopathy | 2018-12-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003977486 | SCV004791350 | likely benign | RYR2-related condition | 2019-04-25 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |