Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000620448 | SCV000737697 | likely benign | Cardiovascular phenotype | 2016-08-25 | 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 | RCV000647261 | SCV000769050 | likely benign | Brugada syndrome 8 | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002506504 | SCV002811326 | likely benign | Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8; Epilepsy, idiopathic generalized, susceptibility to, 18 | 2021-10-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003935729 | SCV004756410 | likely benign | HCN4-related condition | 2019-06-06 | 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). |