Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000517547 | SCV000613591 | likely benign | not specified | 2017-06-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000528383 | SCV000648446 | likely benign | Brugada syndrome 8 | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002455991 | SCV002739434 | likely benign | Cardiovascular phenotype | 2020-06-24 | 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. |
Prevention |
RCV003900071 | SCV004714934 | likely benign | HCN4-related condition | 2022-01-31 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |