Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000470839 | SCV000554507 | likely benign | Brugada syndrome 8 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000618513 | SCV000738131 | likely benign | Cardiovascular phenotype | 2017-08-04 | 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. |
Gene |
RCV001799665 | SCV002043941 | likely benign | not provided | 2021-06-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002506138 | SCV002811393 | likely benign | Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8; Epilepsy, idiopathic generalized, susceptibility to, 18 | 2021-10-12 | criteria provided, single submitter | clinical testing |