Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001702485 | SCV000534164 | likely benign | not provided | 2021-01-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000645222 | SCV000766964 | likely benign | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769486 | SCV000900881 | likely benign | Cardiomyopathy | 2017-09-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411406 | SCV002719322 | likely benign | Cardiovascular phenotype | 2021-02-14 | 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. |
Genome Diagnostics Laboratory, |
RCV001702485 | SCV001928269 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV001702485 | SCV001963608 | likely benign | not provided | no assertion criteria provided | clinical testing |