Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002520398 | SCV000559461 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000842600 | SCV000984627 | likely benign | not provided | 2020-07-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002338947 | SCV002642538 | likely benign | Cardiovascular phenotype | 2019-03-27 | 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. |