Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV000769493 | SCV000900888 | uncertain significance | Cardiomyopathy | 2015-10-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002067211 | SCV002424141 | likely benign | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002352277 | SCV002654854 | 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. |