Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000170655 | SCV000223207 | benign | not specified | 2014-07-16 | 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 | RCV000231973 | SCV000286242 | benign | Long QT syndrome | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000231973 | SCV000447165 | likely benign | Long QT syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000622172 | SCV000737048 | benign | Cardiovascular phenotype | 2016-06-01 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Genome- |
RCV002253260 | SCV002525023 | benign | Cardiac arrhythmia, ankyrin-B-related | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002253260 | SCV002813188 | benign | Cardiac arrhythmia, ankyrin-B-related | 2021-07-28 | criteria provided, single submitter | clinical testing |