Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000647262 | SCV000769051 | likely benign | Brugada syndrome 8 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001562957 | SCV001785810 | likely benign | not provided | 2019-04-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002325280 | SCV002607152 | likely benign | Cardiovascular phenotype | 2020-06-22 | 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, |
RCV002507110 | SCV002795913 | likely benign | Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8; Epilepsy, idiopathic generalized, susceptibility to, 18 | 2021-10-06 | criteria provided, single submitter | clinical testing |