Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000208430 | SCV000263773 | uncertain significance | Brugada syndrome | 2015-08-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000412995 | SCV000490402 | uncertain significance | not provided | 2023-04-12 | criteria provided, single submitter | clinical testing | Identified in an individual with aborted sudden cardiac death (SCD) and an individual with an unspecified arrhythmia in the published literature (van Lint et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30847666, 26582918) |
Invitae | RCV001078702 | SCV000545129 | likely benign | Long QT syndrome | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000619380 | SCV000737519 | likely benign | Cardiovascular phenotype | 2020-11-12 | 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. |
Fulgent Genetics, |
RCV000764530 | SCV000895613 | uncertain significance | Cardiac arrhythmia, ankyrin-B-related | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000412995 | SCV004148762 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | ANK2: BP4, BS1 |
Centre de Biologie Pathologie Génétique, |
RCV001252393 | SCV001428148 | uncertain significance | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |