Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000205324 | SCV000261178 | likely benign | Brugada syndrome | 2023-10-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001753617 | SCV002006948 | likely benign | not provided | 2021-06-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002399764 | SCV002708267 | likely benign | Cardiovascular phenotype | 2021-01-21 | 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. |
Prevention |
RCV003955231 | SCV004773372 | likely benign | CACNA2D1-related condition | 2020-01-27 | 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). |