Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000180276 | SCV000232676 | uncertain significance | not provided | 2015-04-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000552390 | SCV000648445 | likely benign | Brugada syndrome 8 | 2023-10-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426863 | SCV002742055 | likely benign | Cardiovascular phenotype | 2020-03-26 | 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. |
Prevention |
RCV003967444 | SCV004784204 | likely benign | HCN4-related condition | 2019-08-15 | 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). |