Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698110 | SCV000724957 | likely benign | not provided | 2021-06-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001416071 | SCV001618241 | likely benign | Brugada syndrome 8 | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002438593 | SCV002752371 | likely benign | Cardiovascular phenotype | 2019-03-04 | 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. |
Fulgent Genetics, |
RCV002498937 | SCV002794683 | 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 |