Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001721357 | SCV000530805 | likely benign | not provided | 2018-08-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000554783 | SCV000648451 | benign | Brugada syndrome 8 | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002436329 | SCV002750471 | likely benign | Cardiovascular phenotype | 2019-05-20 | 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 |
RCV003922815 | SCV004741648 | likely benign | HCN4-related condition | 2019-05-16 | 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). |