Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000204148 | SCV000259426 | likely benign | Long QT syndrome | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345729 | SCV002646680 | likely benign | Cardiovascular phenotype | 2022-04-23 | 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 |
RCV003390950 | SCV004132351 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | CACNA1C: BP4, BP7 |