Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001393467 | SCV001595129 | likely benign | Long QT syndrome | 2023-03-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381935 | SCV002698283 | likely benign | Cardiovascular phenotype | 2019-11-20 | 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, |
RCV002501248 | SCV002810176 | likely benign | Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 | 2021-08-11 | criteria provided, single submitter | clinical testing |