Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000417449 | SCV000533137 | likely benign | not specified | 2016-10-25 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001519391 | SCV001728254 | benign | Long QT syndrome | 2020-11-17 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253447 | SCV002525085 | benign | Cardiac arrhythmia, ankyrin-B-related | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002379370 | SCV002690082 | likely benign | Cardiovascular phenotype | 2018-06-20 | 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. |
Fulgent Genetics, |
RCV002253447 | SCV002807408 | likely benign | Cardiac arrhythmia, ankyrin-B-related | 2021-07-26 | criteria provided, single submitter | clinical testing |