Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000531613 | SCV000648432 | likely benign | Brugada syndrome 8 | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000614119 | SCV000715372 | likely benign | not provided | 2018-04-06 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23623143) |
Ambry Genetics | RCV002384191 | SCV002670459 | likely benign | Cardiovascular phenotype | 2020-05-29 | 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. |