Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001419293 | SCV001621541 | likely benign | Brugada syndrome 5 | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003169209 | SCV003858660 | likely benign | Cardiovascular phenotype | 2023-03-03 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |