Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000617678 | SCV000738013 | likely benign | Cardiovascular phenotype | 2017-05-26 | 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. |
Invitae | RCV000861883 | SCV001002296 | likely benign | Brugada syndrome 8 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003392455 | SCV004132798 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | HCN4: BP4, BP7 |