Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000171663 | SCV000055274 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Gene |
RCV000412673 | SCV000234182 | likely benign | not specified | 2017-12-06 | 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 | RCV001085306 | SCV000555912 | likely benign | Long QT syndrome | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000618660 | SCV000736285 | likely benign | Cardiovascular phenotype | 2021-01-08 | 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. |
Mendelics | RCV000988001 | SCV001137545 | uncertain significance | Long QT syndrome 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001842517 | SCV001351720 | likely benign | Cardiac arrhythmia | 2018-11-21 | criteria provided, single submitter | clinical testing |