Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002520397 | SCV000760638 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001565842 | SCV001789270 | likely benign | not provided | 2018-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002402073 | SCV002709459 | likely benign | Cardiovascular phenotype | 2022-11-01 | 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. |
Ce |
RCV001565842 | SCV004162093 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | TRDN: BP4 |