Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000546874 | SCV000627595 | likely benign | Long QT syndrome | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000619814 | SCV000738063 | likely benign | Cardiovascular phenotype | 2023-07-05 | 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. |
Fulgent Genetics, |
RCV002490959 | SCV002779428 | uncertain significance | Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 | 2021-10-02 | criteria provided, single submitter | clinical testing |