Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703711 | SCV000522454 | likely benign | not provided | 2019-04-22 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV000466644 | SCV000560961 | likely benign | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002402145 | SCV002709107 | likely benign | Cardiovascular phenotype | 2020-11-16 | 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. |