Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001472446 | SCV001676578 | likely benign | Brugada syndrome 8 | 2023-12-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002324055 | SCV002606930 | likely benign | Cardiovascular phenotype | 2021-01-29 | 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, |
RCV002495699 | SCV002802651 | likely benign | Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8; Epilepsy, idiopathic generalized, susceptibility to, 18 | 2021-08-16 | criteria provided, single submitter | clinical testing |